The genetic diagnosis of vacuolar myopathy
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The genetic diagnosis of vacuolar myopathy

March 30, 2021 0

Background Sarcotubular myopathy (STM) is a rare autosomal recessive disease characterized predominantly by weakness of the proximal limb. Mutations in the TRIM32 gene are often associated with STM and the limb-girdle muscular dystrophy R8 (LGMDR8). […]