The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
Journal of Korean Medical Science
;
: 1021-1024, 2014.
Article
Dans Anglais
| WPRIM
| ID: wpr-70739
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Séquence nucléotidique
/
Glycogénose de type V
/
Exons
/
Mutation avec décalage du cadre de lecture
/
Analyse de séquence d'ADN
/
Délétion de gène
/
Creatine kinase
/
Myophosphorylase
/
Génotype
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2014
Type:
Article
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