Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China

Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 ...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Tags: Case report Source Type: research