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