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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
1998-10-21
|
| pubmed:abstractText |
The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an accumulation of cases may be found. We carried out an epidemiological study in Guipúzcoa, a small mountainous Basque province in northern Spain, and found the highest prevalence rate of LGMD described so far: 69 per million. Genetic studies demonstrated that 38 cases corresponded to the LGMD2A type, due to calpain-3 gene mutations. Only one patient with alpha-sarcoglycanopathy was found, and in 12 patients the genetic defect was not identified. Moreover, the particular calpain-3 mutation predominant in Basque chromosomes (exon 22, 2362AG-->TCATCT), has only been rarely found in the rest of the world. This observation strongly suggests a founder effect in the indigenous population of Guipúzcoa. The clinical characteristics of the patients with calpain-3 gene mutations were quite homogeneous and different from the other groups (sarcoglycanopathy and unknown gene defect), allowing for a precise clinical diagnostic. The disease onset was between the ages of 8 and 15 years, in most cases in the pelvic girdle, and the patients became wheelchair-bound between 11 and 28 years after onset. No pseudohypertrophy of calves or contractures were observed. No clear correlations were found between the nature and site of the mutation and the resulting phenotype.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CAPN3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Calpain,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/Isoenzymes,
http://linkedlifedata.com/resource/pubmed/chemical/Muscle Proteins
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0006-8950
|
| pubmed:author |
pubmed-author:BeckmannJ SJS,
pubmed-author:CoboA MAM,
pubmed-author:García BragadoFF,
pubmed-author:KaplanJ CJC,
pubmed-author:López de MunainAA,
pubmed-author:LeturcqFF,
pubmed-author:Martí MassóJ FJF,
pubmed-author:PozaJ JJJ,
pubmed-author:RichardII,
pubmed-author:RoudautCC,
pubmed-author:SáenzAA,
pubmed-author:UrtasunMM,
pubmed-author:UrtizbereaJ AJA
|
| pubmed:issnType |
Print
|
| pubmed:volume |
121 ( Pt 9)
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1735-47
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9762961-Adult,
pubmed-meshheading:9762961-Age of Onset,
pubmed-meshheading:9762961-Aged,
pubmed-meshheading:9762961-Base Sequence,
pubmed-meshheading:9762961-Calpain,
pubmed-meshheading:9762961-Chromosome Mapping,
pubmed-meshheading:9762961-Chromosomes, Human, Pair 15,
pubmed-meshheading:9762961-DNA Primers,
pubmed-meshheading:9762961-Exons,
pubmed-meshheading:9762961-Female,
pubmed-meshheading:9762961-Genotype,
pubmed-meshheading:9762961-Geography,
pubmed-meshheading:9762961-Humans,
pubmed-meshheading:9762961-Incidence,
pubmed-meshheading:9762961-Isoenzymes,
pubmed-meshheading:9762961-Male,
pubmed-meshheading:9762961-Medical Records,
pubmed-meshheading:9762961-Middle Aged,
pubmed-meshheading:9762961-Muscle, Skeletal,
pubmed-meshheading:9762961-Muscle Proteins,
pubmed-meshheading:9762961-Muscular Dystrophies,
pubmed-meshheading:9762961-Mutation,
pubmed-meshheading:9762961-Phenotype,
pubmed-meshheading:9762961-Point Mutation,
pubmed-meshheading:9762961-Polymerase Chain Reaction,
pubmed-meshheading:9762961-Polymorphism, Genetic,
pubmed-meshheading:9762961-Prevalence,
pubmed-meshheading:9762961-Retrospective Studies,
pubmed-meshheading:9762961-Spain,
pubmed-meshheading:9762961-Syndrome
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
|
| pubmed:affiliation |
Department of Neurology, Hospital Ntra. Sra. Aránzazu, San Sebastián, Basque Country, Spain. murtasuno@meditex.es
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|