Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.
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ABSTRACT:
SUBMITTER: Nabavi Nouri M
PROVIDER: S-EPMC5838269 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Publications
Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.
Nabavi Nouri Maryam M Lamhonwah Anne-Marie AM Tein Ingrid I
Clinical case reports 20180128 3
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 <i>PYGM</i>. ...[more]
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