Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.

ABSTRACT: We present a 16-year-old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM.

SUBMITTER: Nabavi Nouri M 

PROVIDER: S-EPMC5838269 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature