Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.

INTRODUCTION:Sarcoglycanopathies (LGMD 2C2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years. METHODS:Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. RESULTS:Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy. DISCUSSION:Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.

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