Este estudo tem como tema central a busca por uma maior e melhor compreensão do Festival Internacional do Folclore (FIF), que se realiza anualmente em Nova Petrópolis, Rio Grande do Sul, Brasil, colocando-o em diálogo com o turismo, as memórias locais e a etnicidade. Busca-se perceber se o FIF, ao longo das suas 40 edições, teria contribuído para a preservação da memória local, ao mesmo tempo em que incentivaria uma nova memória social do lugar. Para a condução da pesquisa, optou-se pelo viés qualitativo com suporte metodológico na história oral, por se entender que este é o caminho para a interpretação das experiências instauradas e vividas pelos participantes, assim como para o reconhecimento das diversas vozes relacionadas com o Festival. Os dados foram colhidos através de revisão bibliográfica, pesquisa documental e de campo, na forma de entrevistas e observação participante. Buscou-se aproximar a área teórica do turismo e dos eventos, considerando o contexto da história do turismo e do FIF em Nova Petrópolis. Na análise destes temas, afloraram diálogos e (inter) relações que indicam a preservação da memória local, mas se evidencia a construção de novas memórias, especialmente aquelas associadas à germanidade, imaginário que, uma vez criado e projetado na comunidade, estaria contribuindo para a construção de uma identidade e um sentimento de pertencimento e identidade de Nova Petrópolis, a ela associados. / The main theme of this study is the search for a bigger and better understanding of the International Folklore Festival (FIF – Festival Internacional de Folclore), which takes place annually in Nova Petrópolis, Rio Grande do Sul, Brazil; connecting it with tourism, local memories and ethnicity. It tries to discover if FIF, during its forty editions, has contributed to the preservation of the local memory and, at the same time, encouraged the creation of a new social memory from the region. To conduct this research, a qualitative method was chosen, supported in the oral history, since this is the way to interpret the experiences lived by its participants, such as the recognition from the several voices related to the Festival. The data were collected through bibliographic revision, document and field research as interviews and participant observation. This study tried to approximate the theory field to tourism and events, considering the historic background from tourism and FIF in Nova Petrópolis. In the analysis of these themes, dialogues and (inter)relations that indicate the local memory preservation stand out, however the construction of new memories are evident, especially those related to germanness, an imaginary that once created and constructed in the community, would be contributing to an identity construction and a belonging and identity feeling from Nova Petrópolis, related to it.

Le cancer de la prostate est le cancer le plus fréquemment diagnostiqué chez les hommes canadiens. Aucun facteur de risque modifiable n’a été identifié, mais l’alimentation pourrait être impliquée. Les profils alimentaires, décrivant l’ensemble de l’apport alimentaire, constituent une approche de recherche prometteuse. L’objectif général de cette thèse était d’évaluer le rôle des profils alimentaires et du niveau de transformation des aliments sur le risque de cancer de la prostate. Les données colligées dans une vaste étude cas-témoins populationnelle menée chez les résidents montréalais ont été utilisées. Les 1919 cas incidents histologiquement confirmés étaient âgés de 75 ans ou moins et avaient été diagnostiqués entre 2005 et 2009. Les 1991 témoins ont été sélectionnés aléatoirement à partir de la liste électorale, puis appariés aux cas selon l’âge (± 5 ans). Les informations concernant l’alimentation ont été recueillies avec un questionnaire de fréquence alimentaire documentant la consommation deux ans avant le diagnostic ou l’entrevue. Le premier objectif visait à identifier des profils alimentaires parmi les témoins francophones ainsi que les caractéristiques associées à ces profils. Une analyse en composantes principales a permis d’identifier les profils alimentaires Santé, Occidental modifié - Salé et Occidental modifié - Sucré. Le profil Santé a été associé à des niveaux plus élevés de revenu et d’éducation, à un niveau modéré d’activité physique et à un faible niveau de tabagisme. Le profil Occidental modifié - Salé a été associé avec des ethnicités française, européenne (autre que française) ou latine, avec le fait d’être marié ou en union libre, et était inversement associé avec l’âge. Le profil Occidental modifié - Sucré était plus commun chez les hommes d’origine française et chez les consommateurs de suppléments de vitamines et minéraux. Le deuxième objectif visait à évaluer les associations entre les profils alimentaires et le cancer de la prostate. Les rapports de cotes (RC) et intervalles de confiance (IC) à 95% ont été obtenus par régression logistique non conditionnelle ajustée pour les facteurs de confusion. Le profil Santé était inversement associé au risque de cancer de la prostate (RC= 0,76 [IC 95% = 0,61-0,93], en comparant le quartile supérieur au quartile inférieur). Le profil Occidental - Sucré et Boissons était associé à une augmentation du risque de cancer de la prostate (RC= 1,35 [IC 95% =1,10-1,66], quartile supérieur vs inférieur). Ces résultats sont novateurs. Aucune association n’a été observée avec le profil Occidental - Salé et Alcool. Le troisième objectif visait à évaluer l’association entre le niveau de transformation des aliments et le cancer de la prostate. Les aliments transformés étaient associés à une augmentation du risque (RC= 1,32 [IC 95% =1,07-1,62], quartile supérieur vs inférieur) et l’association était légèrement plus prononcée pour les cancers agressifs. En conclusion, ces résultats suggèrent que les profils alimentaires et le niveau de transformation des aliments jouent un rôle dans le développement du cancer de la prostate. Il s’agit d’informations importantes pour soutenir la promotion de saines habitudes de vie et la prévention du cancer de la prostate. / Prostate cancer is the most commonly diagnosed cancer among men in Canada. No modifiable risk factor has been identified, but diet is suspected to play a role. Dietary patterns, which describe the overall dietary intake rather than the consumption of specific foods or nutrients, represent a promising research approach. The general objective of this thesis was to assess the role of dietary patterns and the level of food processing on the risk of prostate cancer. Data collected in a large population-based case-control study conducted among Montreal residents were used. The 1919 histologically confirmed incident cases were 75 years of age or younger and had been diagnosed between 2005 and 2009. Concurrently, the 1991 controls were randomly selected from the electoral list and frequency-matched to cases by age (± 5 years). Food consumption was assessed using a food frequency questionnaire focusing on the period two years before diagnosis or interview. The first objective was to identify dietary patterns among the French-speaking controlsas well as the characteristics associated with these patterns. Principal component analysis led to the identification of three dietary patterns: Healthy, Western modified - Salty and Western modified - Sweet. The Healthy pattern was associated with higher income, education, moderate levels of recreational physical activity and lower levels of smoking. The Western modified – Salty pattern was positively associated with French, other European (other than French), and Latino ancestries, and with married and common-law relationships, whereas it was inversely associated with age. Finally, the Modified Western – Sweet pattern was more common among men of French ancestry and users of vitamin/mineral supplements. The second objective was to assess associations between the different dietary patterns and prostate cancer. Odds ratios (OR) and 95% confidence interval (95% CI) were obtained by unconditional logistic regression adjusting for confounders. The Healthy dietary pattern was inversely associated with prostate cancer (OR = 0,76 [95% CI = 0,61-0,93], highest vs lowest quartile), whereas the Western - Sweet and beverages pattern increased the risk of this cancer (OR = 1,35 [95% CI = 1,10-1,66], highest vs lowest quartile). Both results are novel. The Western - Salty and alcohol pattern was not associated with prostate cancer risk. The third objective was to assess the association between the level of food processing and prostate cancer. The level of food processing in the diet was assigned using the NOVA food classification. Processed foods were associated with an increased risk (OR = 1,32 [95% CI] = 1,07-1,62], highest vs lowest quartile) of prostate cancer, and the association was slightly more pronounced for high-grade prostate cancers. In conclusion, these results suggest that dietary patterns and the level of food processing play a role on the risk of developing prostate cancer. This information is important for promoting a healthy lifestyle and for prostate cancer prevention.

[pt] No estado do Rio de Janeiro observam-se claras modificações do espaço urbano como a ocupação de áreas destinadas à proteção ambiental. Quanto maior a proximidade com o perigo eminente maior o risco associado. A ocupação urbana e as atividades antrópicas, nas encostas, potencializam os danos causados por desastres naturais como as tragédias ocorridas na Região Serrana do Estado do Rio de Janeiro em 2011 e em 2022. É relevante ressaltar que se passaram 10 anos desde que foram decretadas mudanças no Código Florestal. Este trabalho compara o atual Código Florestal com o antigo Código Florestal avaliando os impactos na extensão e ocupação das áreas protegidas decorrente dos novos parâmetros topográficos. Para tal, utiliza-se como área de estudo o município de Nova Friburgo/RJ. Realizase uma análise do comportamento da ocupação antrópica observando-se 10 anos antes e 10 anos após o decreto do atual Código Florestal. Utiliza-se a técnica de geoprocessamento para levantamento e espacialização do Código Florestal, com auxílio de Sensoriamento Remoto para verificar o uso e ocupação nestes períodos. Para contabilizar as áreas que deixaram de ser protegidas, fez-se uso dos softwares ArcGIS e Google Earth e notou-se a perda de 87,72 por cento, além do o crescimento de 2,69 hectares de área urbanizada e 175,88 de silvicultura do antigo Código Florestal. Os resultados apontam riscos à preservação da fauna e flora, à qualidade das águas dos cursos hídricos e do ciclo hidrológico local dado o crescimento das atividades antrópicas nas regiões antes destinadas à preservação permanente de topo de morro. / [en] Cities in the world are undergoing changes in their landscape due to population growth. According to the United Nations (UNITED NATIONS, 2022), it is estimated that by 2030 the global population will grow to about 8.5 and approach around 9.7 billion inhabitants by 2050. In addition, a peak of 10.4 billion inhabitants is projected in 2080, remaining in this range until 2100. Urban swelling often takes direction to areas of native vegetation that, protected or not by law, undergo irreversible changes in their local fauna and flora. For Vasconcelos and Gomes (2012), the process of expansion of cities is linked to how population growth occurs. In addition, both claim that the growth rate of the world s population is increasing at a rate never seen before: the figures represent that this population has doubled since the 1970s. One of the causes of the growth in the case of the Brazilian population in the last 50 years, for example, according to Lebrão (2007), refers to changes in demographic conditions. Previously with high levels of mortality and fecundity, there are currently low mortality and fertility rates that, consequently, corroborates the aging of the population. Population growth and the expansion of cities are associated. In general, the organization of urban space depends on the relations of the population and the offers of living conditions that the urban environment offers. Often the state designs the city according to its interests. The areas that present imminent dangers, end up being occupied by the portion of the population with less income because of the high cost of housing in the regions that provide better security conditions. According to Tucci (2005, p. 13), growth in areas considered at risk is linked to the process of spontaneous urbanization and due to urban planning designed for the noblest areas of the city with a middle and high income population.

Master of Science / Department of Civil Engineering / Mustaque A. Hossain / Preventive maintenance strategies are applied to pavement to bring it back to appropriate serviceability when it starts to deteriorate soon after construction due to several factors, e.g., traffic loading, deterioration of pavement materials, and climatic effects. In recent years, more and more highway agencies are adopting preventive maintenance strategies and moving away from rehabilitation actions since rehabilitating pavements at near failure is not a cost-effective pavement management technique. A variety of preventive maintenance treatments or thin surface treatments are available to bring pavements back to appropriate serviceability for road users. The Kansas Department of Transportation (KDOT) has adopted several preventive maintenance treatments including thin overlay, ultra-thin bonded asphalt surface (Nova Chip), chip seal, and slurry seal. This thesis discusses the effectiveness of thin surface or preventive maintenance treatments applied in 2007 on 16 highway sections in Kansas. Three types of thin surface treatments, 25-mm Hot-Mix-Asphalt (1” HMA) overlay, ultra-thin bonded asphalt surface (Nova Chip), and chip seal, were examined in this study. These treatments were applied on three types of surface preparation, namely, bare surface, 25-mm surface recycle (1” SR), and 50-mm surface recycle (2” SR). Effectiveness of the thin surface or preventive maintenance treatments for mitigating typical distresses and enhancing pavement performance was evaluated by conducting before-and-after (BAA) comparisons. All data required for this study were extracted from the Pavement Management Information System (PMIS) database of KDOT. It was observed that transverse and fatigue cracking significantly decreased and rutting conditions were improved after the thin surface treatments were applied. Roughness conditions were observed to be better on the highway test sections treated with 25-mm (1”) HMA and Nova Chip, while the effects of chip seals on reducing roughness were not as obvious. Benefit and performance levels of the pavements were observed to rise after the thin surface treatments were applied. The Hamburg Wheel-Tracking Device (HWTD) test was conducted on core samples taken from the highway sections under this study. Laboratory test results showed that most projects exceeded the maximum rut-depth limit (20 mm) specified for 20,000 wheel passes, and the number of wheel passes to failure varied significantly among the projects. Cores from only three projects, two treated with Nova Chip and one with 25-mm (1”) HMA, carried 20,000 wheel passes without exceeding the maximum rut limit of 20 mm (0.8 inch). Pair-wise comparisons or contrasts among the treatments were also performed with the statistical analysis software, SAS. Air void of the HWTD test cores was found to be a significant factor affecting performance of thin surface treatments. The results also revealed that performance was significantly affected by the type of treatment and surface preparation.

Diploma thesis "A Comparative Analysis of Foreign News in the Main News Sessions of TV Stations ČT1, TV Nova and Prima TV in 2010" studies the way of producing foreign news by Czech TV stations in the year 2010. Also, it focuses on the question which countries were mentioned. The introductory part discusses the Czech and foreign literature and offers the overview of TV news production, international flow of communication and factors which influences the production of foreign news. It also introduces the main news sessions Události, Televizní noviny and Zprávy TV Prima. The analysis of foreign news service is divided into two parts, first inquires into differences in used types of reports, their representation in the main news sessions, the topical structure and other characteristics connected with the production of news. Then, the second part concentrates on the states which were mentioned in the foreign news and focuses on the impacts influencing the production of foreign news by the Czech TV stations. For both parts of the analysis methods of quantitative research were used. The thesis also studies the differences between the main news sessions of private TV channels TV Nova and Prima TV and ČT1 which offer public service broadcasting. The final part summarizes the results of the quantitative...

This diploma thesis deals with the development of using global TV formats on Czech TV channels during 2000-2013. Development is studied in comparison between Czech Television as a public medium and private channels TV Nova and FTV Prima. Global TV formats recently became basic building blocks for production of their own programs in TV entertainment. Thesis focuses on the approach of the TV channels in using global TV formats. It outlines the development of TV genres of global TV formats on Czech TVs and shows how Czech TV stations have dealt with their production and how they have interested the Czech TV spectators. The thesis is based on theoretical background of media globalization supposing that business with global formats has a strong influence over current TV entertainment. TV market offers many various TV formats and TV stations buy them because they have information about success in other countries. It shows that in recent years the offer of global TV formats is so heterogeneous and wide that viewer rating and success of single formats is not so high as in the beginning of the trend in TV entertainment. In the followed period the Czech TV market has been changed by digitalization of Czech TV broadcasting and there is also a phenomenon of media convergence.

This diploma thesis deals with the development of TV listings of major Czech commercial channels, TV Nova and TV Prima, during 2002 - 2012. It focuses solely on their own production and covers the shift in aired genres, which has changed from the earlier variety shows and quiz shows to reality shows and soap operas that run the listings nowadays. Most TV production is based on so-called reality TV; there the emphasis is on capturing reality in a way, which is attractive for viewers and goes across many genres and styles. Consequently, the line between genres is becoming very thin and is no longer determining. The approaches these two channels took to structuring their TV listings are also very important since each had its own specific way. This thesis draws on theoretical grounds and covers important mechanisms affecting TV in the Czech Republic in three basic areas (global, technological and economic). It points out that globalization has brought about homogenized culture and international integration, which means many programmes are of foreign license. Moreover, we can see the trend of internetisation and convergence of TV content, which is increasingly influenced by modern technologies. The purpose of all this is high ratings that affect profits from advertising. And economic profit is for...

This Master of Arts thesis examines how political marketing, and the Doer/Dexter model specifically, helped the NDP in Manitoba and Nova Scotia win elections from 1999 through 2007 in Manitoba and in 2009 in Nova Scotia. The study uses content analysis on the election platforms of the period and elite interviews with key political strategists of the NDP in order to gain insight and draw conclusions on what political marketing elements were critical to the party’s electoral success. This study concludes that the NDP in Manitoba and Nova Scotia used market research and a similar comprehensive political marketing strategy, now known as the Doer/Dexter model, which focused on the simplification of communication, the moderation of policy and the inoculation of any perceived weakness in order to win power. / May 2016

As neuropatias periféricas hereditárias são um grupo heterogêneo de doenças relacionadas que afetam o sistema nervoso periférico. Elas podem ser classificadas de acordo com a velocidade de condução motora nos membros superiores (tipo 1 - CMT1, tipo 2 - CMT2 ou intermediário - iCMT), de acordo com o padrão de herança (autossômicas dominantes, autossômicas recessivas ou ligadas ao X) e quanto ao fenótipo de apresentação (neuropatias hereditária sensitivo e motora - CMT, neuropatia hereditária sensitiva - HSN ou neuropatia motora hereditária distal - dHMN). O uso das tecnologias de sequenciamento de nova geração (NGS) para diagnóstico de pacientes com neuropatia hereditária é particularmente eficiente uma vez que representa uma doença Mendeliana com mais de 90 genes diferentes relacionados. Foram avaliados 30 pacientes com diferentes subtipos de neuropatia hereditária (3 CMT1, 12 CMT2, 8 iCMT, 4 dHMN e 3 HSN). Foram identificadas 6 mutações (SH3TC2, GDAP1, MME, IGHMBP2, 2 AARS) e 7 variantes provavelmente patogênicas (KIF1A, DRP2, MME, MPZ, VRK1, SIGMAR1, FLVCR1). Com uma taxa de positividade de 43.3%. As variantes provavelmente patogênicas foram consideradas como a causa da apresentação fenotípica apresentada pelos pacientes baseado na frequência de variantes nos bancos de população normal, no efeito bioquímico das variantes sobre a estrutura proteica e pela análise in silico. No entanto, essas variantes necessitam de evidências adicionais que confirmem sua patogenicidade. Foram identificadas variantes novas nos genes MPZ, KIF1A, DRP2, IGHMBP2, VRK1, SIGMAR1 e FLVCR1 ampliando a variabilidade genotípica desses genes. A associação das mutações identificadas nos genes VRK1, KIF1A, IGHMBP2 e FLVRC1 permitiu a expansão dos fenótipos relacionados a esses genes. Mutações no gene VRK1 podem causar uma dHMN com sinais de liberação piramidal e envolviemento preferencial do compartimento posterior da perna. Transtorno do espectro autista pode ser observado em associação a mutações no gene KIF1A e mutações no gene FLVRC1 podem causar um fenótipo grave caracterizado por insensibilidade congénita a dor e acromutilações. Mutações no gene IGHMBP2 podem causar uma sobreposição entre os fenótipos SMARD1/CMT2S com disautonomia restrita ao trato gastro intestinal. Esse estudo demonstra que o uso de WES para o diagnóstico molecular de doenças geneticamente heterogêneas como as neuropatias hereditárias é uma ferramenta útil. / The hereditary peripheral neuropathies are a heterogeneous group of genetic disorders in which peripheral nervous system degeneration leads to weakness, atrophy and loss of sensation. It can be classified according motor conduction velocities in the upper limbs (type 1 - CMT1, type 2 - CMT2 or intermediate - iCMT), according to inheritance pattern (autosomal dominant, autosomal recessive or X linked) and according to the mainly group of fibres clinically involved (hereditary sensory and motor neuropathy - CMT, hereditary sensory neuropathy - HSN or distal hereditary motor neuropathy - dHMN). The use of next generation sequencing technologies (NGS) for the diagnosis of patients with genetic diseases is well established, as CMT is a Mendelian disease with more than 90 different related genes already reported. We evaluated 30 patients with all subtypes of hereditary neuropathy (3 CMT1, 12 CMT2, 8 iCMT, 4 dHMN and 3 HSN). Six mutations (SH3TC2, GDAP1, MME, IGHMBP2, 2 AARS) and 7 likely pathogenic variants (KIF1A, DRP2, MME, MPZ, VRK1, SIGMAR1, FLVCR1) were detected, leading to a positive rate of 43.3%. Likely pathogenic variants were considered based on their frequency in normal population, in silico analysis and segregation with phenotype. Despite they have strong evidences to support their causative status further evidence of their pathogenicity is required. New variants were identified in the genes MPZ, KIF1A, DRP2, IGHMBP2, VRK1, SIGMAR1 and FLVCR1 amplifying their genotypic variability. The mutations identified in VRK1, KIF1A, IGHMBP2 and FLVRC1 expanded their phenotype spectrum. Mutations in the VRK1 gene may cause dHMN with upper motor neuron signs. Autistic spectrum disorder may be observed in association with mutations in the KIF1A gene and mutations in the FLVRC1 gene may cause a severe phenotype characterized by congenital insensitivity to pain and acromutilations. Mutations in the IGHMBP2 gene may cause an overlap between SMARD1 and CMT2S phenotypes with organ specific dysautonomia. This study demonstrates that WES is a powerful tool for molecular diagnosis of hereditary neuropathies. Additionally, this study provides new information on the mutations in the VRK1, KIF1A and FLVRC1 genes by adding new mutations and increasing the phenotypic variability of the neuropathies associated with these genes.This study demonstrates WES is a powerful tool for molecular diagnosis of hereditary neuropathies.

A miopatia miotubular é uma doença genética congênita que afeta a musculatura esquelética e respiratória, causada por mutações no gene MTM1. Apresenta padrão de herança recessivo ligado ao cromossomo X e frequência estimada de 1/50.000 meninos nascidos vivos. O diagnóstico é geralmente realizado através de biopsia muscular, com presença de fibras pequenas com núcleo central, predominância de fibras do tipo I, concentração de miofibrilas na periferia da fibra e região central ocupada por acúmulos de mitocôndrias e glicogênio. O quadro clínico é bastante grave, com manifestação clínica no período neonatal e óbito nos primeiros meses, ou ano de vida. Os pacientes apresentam hipotonia e fraqueza muscular generalizadas, dificuldade de alimentação, ptose palpebral, oftalmoplegia, hérnia inguinal e criptorquidia. Mulheres portadoras das mutações são geralmente assintomáticas, mas diversos casos de heterozigotas sintomáticas têm sido relatados. Pacientes com miopatias congênitas estruturais vem sendo estudados nos últimos 20 anos no Centro de Pesquisa do Genoma Humano e Células Tronco (CPGH-CEL) da Universidade de São Paulo (USP). Atualmente, em razão do avanço das tecnologias de análise molecular do DNA, como o sequenciamento de nova geração (NGS - Next Generation Sequencing), o diagnóstico tem se tornado cada vez mais preciso. No presente trabalho, pacientes de 12 famílias estudadas no CEGH-CEL foram submetidos à triagem mutacional, utilizando técnica de NGS. Onze mutações foram identificadas (c.109 C>T; c.139_142 delAAAG; c.706 A>T; c.1010 G>A, c.1181 A>G, c.1262 G>A, c.1354 -1 G>C, c.1465_1465delC, c.1467 +1 G>A, c.1528 A>T; c.1528 A>T); entre elas 5 já descritas como patogênicas e 6 são novas. Em duas famílias, foram identificadas 4/8 e 2/4 mulheres portadoras apresentando algum nível de manifestação clínica. A análise de desvio de inativação do X revelou desvio aleatório em pelo menos 4 das heterozigotas manifestantes. Além disso, adicionando os casos deste trabalho aos relatados na literatura, a taxa de penetrância da doença foi estimada em 30% em mulheres heterozigotas, o que é compatível com um padrão de penetrância incompleta e poderia explicar a alta frequência de mulheres manifestantes. Uma análise de exomas foi realizada a fim de identificar possíveis genes modificadores que explicassem a variabilidade clínica observada. Foi identificada uma região de 4,2 Mb contendo genes contíguos no cromossomo 19 que pode estar relacionado à modulação do fenótipo / Myotubular myopathy is a rare congenital muscle genetic disease, caused by mutations in the MTM1 gene. With a X-linked recessive inheritance, the disease affects 1/50.000 living born males. The clinical picture is characteristic and very severe, with manifestation in the neonatal period, including generalized hypotonia and muscle weakness, feeding difficulty, palpebral ptosis, ophthalmoplegia, inguinal hernia, and cryptorchidism. Most affected die in the first few months or year of life, and those who survive often depend on care and assistance to perform activities of daily living, as well as require mechanical ventilation and enteral nutrition. Females carrying the mutations are generally asymptomatic, but several cases of symptomatic heterozygotes have been reported, compared to the low frequency of manifesting carriers in other X-recessive diseases. Patients with structural congenital myopathies have been studied in the last 20 years at the Human Genome and Stem Cell Research Center (HUG-CELL) at the University of São Paulo (USP). The diagnosis of myotubular myopathy is usually made with muscle biopsy findings, with small fibers with central nuclei, the predominance of type I fibers, the concentration of myofibrils in the periphery of the fiber and central region occupied by accumulations of mitochondria and glycogen. More recently, with the advancement of DNA molecular analysis technologies, such as Next Generation Sequencing (NGS), the diagnosis has become increasingly accurate. In the present study, patients from 12 families studied in the HUG-CEL were submitted to mutation screening using NGS techniques. Eleven mutations were identified (c.109 C> T; c.139_142 delAAAG; c.706 A> T; c.1010 G> A, c.1181 A> G, c.1262 G> A, c.1354-1 G> C, c.1465_1465delC, c.1467 +1 G> A, c.1528 A> T; c.1528 A> T); among them 6 are novel. In two families, 4/8 and 2/4 female carriers were identified, presenting some level of clinical manifestation. Inactivation skewing analysis of the X chromosome revealed random inactivation in at least 4 of the manifesting carriers. In addition, joining the cases of this work to those reported in the literature, the disease penetrance rate was estimated to be 30% in heterozygous women, which is compatible with an incomplete penetrance pattern and could explain the high frequency of manifesting females. An exome analysis was performed to identify possible modifying genes that explain the observed clinical variability. A region of 4,2 Mb containing contiguous genes was identified on chromosome 19 that may be related to phenotype modulation