Journal article
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie, Vol.317(1), pp.70-76
01/1994
PMID: 7987694
Abstract
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.
Details
- Title: Subtitle
- Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
- Creators
- N B Romero - INSERM U. 153, CNRS URA 614, Paris, FranceF M ToméF LeturcqF E el KerchK AzibiL BachnerR D AndersonS L RoberdsK P CampbellM Fardeau
- Resource Type
- Journal article
- Publication Details
- Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie, Vol.317(1), pp.70-76
- Publisher
- France
- PMID
- 7987694
- ISSN
- 0764-4469
- Language
- English
- Date published
- 01/1994
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068369602771
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