Document Detail


Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
MedLine Citation:
PMID:  7987694     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Severe autosomal recessive muscular dystrophy (SCARMD), McKusick n. 253700, has been originally described in North-African populations, in which significant linkage has been established with DNA markers mapping to the proximal region of the long arm of chromosome 13, without evidence for heterogeneity of the SCARMD locus in these populations. A striking feature of this disease is the isolated deficiency of adhalin, a sarcolemmal 50 kDa dystrophin-associated glycoprotein. We report a non-inbred French family with a milder progressive form of muscular dystrophy affecting subjects of both sexes. The parents are not affected suggesting an autosomal recessive transmission. In 4 siblings displaying mild to overt clinical signs of muscular dystrophy, serum creatine kinase was high, and muscle specimens showed variable degree of necrosis-regeneration with little fibrosis. In the 4 cases adhalin was completely absent in muscle sections, whereas dystrophin and the other members of the dystrophin-associated protein complex were normal, except for the 35 kDa dystrophin-associated glycoprotein which was decreased as usually observed in SCARMD. Linkage and homogeneity analysis using 4 microsatellite markers of chromosome 13q that are linked to the North-African SCARMD locus were performed in this family. Results show that the morbid locus involved in this family does not map to the same region as the SCARMD locus. This second locus may be involved in sporadic cases of muscular dystrophy with adhalin deficiency that have been reported in Europe.
Authors:
N B Romero; F M Tomé; F Leturcq; F E el Kerch; K Azibi; L Bachner; R D Anderson; S L Roberds; K P Campbell; M Fardeau
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie     Volume:  317     ISSN:  0764-4469     ISO Abbreviation:  C. R. Acad. Sci. III, Sci. Vie     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1995-01-09     Completed Date:  1995-01-09     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8503078     Medline TA:  C R Acad Sci III     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  70-6     Citation Subset:  IM    
Affiliation:
INSERM U. 153, CNRS URA 614, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Creatine Kinase / blood
Cytoskeletal Proteins / deficiency*
Female
Genes, Recessive
Genetic Variation
Histocytochemistry
Humans
Male
Membrane Glycoproteins / deficiency*
Muscles / metabolism,  pathology
Muscular Dystrophies / enzymology,  genetics*,  metabolism,  pathology
Pedigree
Sarcoglycans
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Membrane Glycoproteins; 0/Sarcoglycans; EC 2.7.3.2/Creatine Kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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