![The genetic diagnosis of vacuolar myopathy The genetic diagnosis of vacuolar myopathy](https://blog.bjbms.org/wp-content/uploads/2021/03/Photo-of-our-research-group-326x245.jpg)
Author Summary
The genetic diagnosis of vacuolar myopathy
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). […]