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The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report

Authors
 Hyung Jun Park  ;  Ha Young Shin  ;  Yu Na Cho  ;  Seung Min Kim  ;  Young-Chul Choi 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.29(7) : 1021-1024, 2014 
Journal Title
 JOURNAL OF KOREAN MEDICAL SCIENCE 
ISSN
 1011-8934 
Issue Date
2014
MeSH
Adult ; Base Sequence ; Creatine Kinase/blood ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Genotype ; Glycogen Phosphorylase, Muscle Form/genetics ; Glycogen Storage Disease Type V/diagnosis* ; Glycogen Storage Disease Type V/genetics ; Glycogen Storage Disease Type V/pathology ; Humans ; Pedigree ; Sequence Analysis, DNA
Keywords
Glycogen Storage Disease Type V ; McArdle's Disease ; Phosphorylase, Glycogen, Muscle (PYGM)
Abstract
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Files in This Item:
T201403266.pdf Download
DOI
10.3346/jkms.2014.29.7.1021
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Cho, Yu Na(조유나)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99812
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