Hereditary myopathy with early respiratory failure: occurrence in various populations

31 affected patients with a clinical diagnosis of hereditary myopathy with early respiratory failure (HMERF) without a known molecular genetic cause, and 26 healthy family members, from 12 unrelated families across 7 countries. Mean age 49 years, 16 male and 15 female.

Genotyping, exome sequencing, and Sanger sequencing

Identification of genetic mutations causing HMERFsurrogate