Open AccessNovel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
Author(s) -
Nabavi Nouri Maryam,
Lamhonwah AnneMarie,
Tein Ingrid
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1233
Subject(s) - medicine , exercise intolerance , missense mutation , weakness , cardiology , mutation , muscle weakness , physical medicine and rehabilitation , surgery , genetics , gene , heart failure , biology
Key Clinical Message 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 .