DYSF mutation analysis in a group of Chinese patients with dysferlinopathy

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

“…Two mutations were recurrent (c. 965T > C and c. 3220_3221delCT, both identified in three unrelated patients). Two mutations previously identified in Chinese patients were retrieved in our cohort: c. 937 + 1G > A 6 and c. 3112C > T. 7 Altogether, our study underlines the clinical heterogeneity and reports a high proportion of novel mutations in Chinese patients with dysferlinopathy, outlining the importance of further characterization of this disease in China.…”

“…[2,3] Dysferlinopathies have been reported in different populations, [4] including 15 Chinese patients with genetic studies. [5][6][7] We report mutational data from the largest Chinese cohort to date, including 31 novel disease-causing mutations which point to a specific mutational spectrum.…”

Progress and challenges in diagnosis of dysferlinopathy

“…This phenotype is characterized by weakness in the tibialis anterior muscle, foot‐drop, early ankle contractures, high CK values, and dystrophic muscle biopsy without rimmed vacuoles …”

Caracterização da força e da função muscular nas disferlinopatias em amostra brasileira

“…Nossa amostra apresentou ligeira prevalência do sexo masculino (52,5%), compatível com achados de Diniz et al (2012) e Zhao et al (2013), porém, diferentemente da prevalência feminina encontrada em países orientais e na população mexicana (Gómez-Díaz et al, 2012;Shin et al, 2015).…”

“…O início dos sintomas ocorre frequentemente na adolescência ou início da idade adulta (entre 15 a 30 anos) Zhao et al, 2013), embora tenham sido relatados casos congênitos, ou seja, início dos sintomas ao nascimento, e casos com início dos sintomas tardio, aos 70 anos de idade .…”