Facioscapulohumeral muscular dystrophy is characterized by genetic/epigenetic heterogeneity and intrafamilial and interfamilial clinical variability. Part of this variability is related to genetic/epigenetic factors such as the residual number of D4Z4 repeats on permissive chromosome(s) 4, the presence of mutation in chromatin modifiers genes. FSHD female patients have been reported as being less severely affected than males and presenting a higher proportion of asymptomatic carriers. Gender-related variability of clinical expression is not well understood.

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