We developed, in collaboration with medical teams of the French South-West Reference Center of neuromuscular disorders, a next generation sequencing (NGS) diagnostic strategy of a large panel of genes. In addition to 76 genes implicated in myopathies and muscular dystrophies (M-MDs), 67 genes involved in other neuromuscular phenotypes (congenital myasthenia…) were added, to detect potential atypical cases. Analysis of a cohort of pediatric M-DM patients (mostly sporadic cases) without diagnosis allowed identification of the involved gene in nearly 50% of cases.

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