Source:http://linkedlifedata.com/resource/pubmed/id/16154688
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
|
| pubmed:dateCreated |
2005-11-21
|
| pubmed:abstractText |
We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four individuals who had the same genotype for PYGM, showed a wide variability in the presentation of the clinical phenotype, including one patient with a restrictive respiratory pattern, which is unusual in McArdle's disease. Moreover, these patients were studied for the insertion/deletion (I/D) trait in the angiotensin converting enzyme (ACE) which has been suggested to be a strong modulator of severity in McArdle's disease. Our results indicate no association of the I/D ACE trait in this family, suggesting that other factors would be more relevant in determining the severity of the clinical presentation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0304-3940
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
31
|
| pubmed:volume |
391
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
28-31
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:16154688-Aged,
pubmed-meshheading:16154688-Family,
pubmed-meshheading:16154688-Female,
pubmed-meshheading:16154688-Genetic Predisposition to Disease,
pubmed-meshheading:16154688-Genetic Variation,
pubmed-meshheading:16154688-Genotype,
pubmed-meshheading:16154688-Glycogen Phosphorylase, Muscle Form,
pubmed-meshheading:16154688-Glycogen Storage Disease Type V,
pubmed-meshheading:16154688-Humans,
pubmed-meshheading:16154688-Male,
pubmed-meshheading:16154688-Middle Aged,
pubmed-meshheading:16154688-Muscles,
pubmed-meshheading:16154688-Muscular Diseases,
pubmed-meshheading:16154688-Pedigree,
pubmed-meshheading:16154688-Phenotype,
pubmed-meshheading:16154688-Polymorphism, Genetic,
pubmed-meshheading:16154688-Risk Assessment,
pubmed-meshheading:16154688-Risk Factors,
pubmed-meshheading:16154688-Spain
|
| pubmed:year |
2005
|
| pubmed:articleTitle |
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
|
| pubmed:affiliation |
Unidad de Neurología, Hospital de Zafra, Badajoz, Spain.
|
| pubmed:publicationType |
Journal Article,
Clinical Trial
|