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

Authors :
Nabavi Nouri M
Lamhonwah AM
Tein I
Source :
Clinical case reports [Clin Case Rep] 2018 Jan 28; Vol. 6 (3), pp. 499-501. Date of Electronic Publication: 2018 Jan 28 (Print Publication: 2018).
Publication Year :
2018

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 .

Details

Language :
English
ISSN :
2050-0904
Volume :
6
Issue :
3
Database :
MEDLINE
Journal :
Clinical case reports
Publication Type :
Report
Accession number :
29531726
Full Text :
https://doi.org/10.1002/ccr3.1233