McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
McArdle
mutation
myophosphorylase
permanent weakness
second-wind
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
15 Feb 2020
15 Feb 2020
Historique:
received:
16
12
2019
revised:
11
02
2020
accepted:
12
02
2020
entrez:
21
2
2020
pubmed:
23
2
2020
medline:
23
2
2020
Statut:
epublish
Résumé
A clinical, biochemical, histological and molecular genetic analysis of 60 McArdle patients (33 males and 27 females; mean age at diagnosis: 37 years) was performed. The objective of this study was to identify a possible genotype-phenotype correlation in McArdle disease. All patients complained of exercise-induced myalgia and fatigue; permanent weakness was present in 47% of the patients. Five percent of patients conveyed of masticatory muscle weakness. Age of onset was <15 years in 92% patients. Serum creatine kinase was elevated 5 to13-fold. Forearm ischemic test showed decreased lactate production but excessively increased ammonia upon exercise (
Identifiants
pubmed: 32075227
pii: biomedicines8020033
doi: 10.3390/biomedicines8020033
pmc: PMC7168270
pii:
doi:
Types de publication
Journal Article
Langues
eng
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