|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
2008-11-25
|
|
pubmed:abstractText |
McArdle disease (glycogenosis type V) is an autosomal recessive metabolic myopathy. Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase (PYGM). Among patients of the department, we searched for correlations between disease phenotype, biochemistry analysis of muscle samples and PYGM genotype.
|
|
pubmed:language |
fre
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0035-3787
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
164
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
912-6
|
|
pubmed:meshHeading |
pubmed-meshheading:18808785-Adolescent,
pubmed-meshheading:18808785-Adult,
pubmed-meshheading:18808785-Amino Acid Substitution,
pubmed-meshheading:18808785-Creatine Kinase,
pubmed-meshheading:18808785-Female,
pubmed-meshheading:18808785-France,
pubmed-meshheading:18808785-Glycogen Phosphorylase, Muscle Form,
pubmed-meshheading:18808785-Glycogen Storage Disease Type V,
pubmed-meshheading:18808785-Humans,
pubmed-meshheading:18808785-Male,
pubmed-meshheading:18808785-Middle Aged,
pubmed-meshheading:18808785-Mutation,
pubmed-meshheading:18808785-Young Adult
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
|
|
pubmed:affiliation |
Centre de référence pour les maladies neuromusculaires et la SLA, hôpital de l'Archet-1, route St-Antoine-de-Ginestière, B.P. 3979, 06202 Nice cedex 3, France. emilien.delmont@wanadoo.fr
|
|
pubmed:publicationType |
Journal Article,
English Abstract
|
