Journal article
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
Cell (Cambridge), Vol.78(4), pp.625-633
1994
DOI: 10.1016/0092-8674(94)90527-4
PMID: 8069911
Abstract
Adhalin, the 50 kDa dystrophn-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.
Details
- Title: Subtitle
- Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
- Creators
- Steven L Roberds - Howard Hughes Medical Institute and Department of Physiology and Biophysics University of Iowa College of Medicine Iowa City, Iowa 52242 USAFrance Leturcq - Institut National de la Santé et de la Recherche Médicale Unité 129 and Laboratoire de Biochimie Génétique Centre Hospitalier Universitaire Cochin Université René Descartes 75014 Paris, FranceValérie Allamand - Centre d'Études du Polymorphisme Humain 75010 Paris, FranceFederica Piccolo - Institut National de la Santé et de la Recherche Médicale Unité 129 and Laboratoire de Biochimie Génétique Centre Hospitalier Universitaire Cochin Université René Descartes 75014 Paris, FranceMarc Jeanpierre - Institut National de la Santé et de la Recherche Médicale Unité 129 and Laboratoire de Biochimie Génétique Centre Hospitalier Universitaire Cochin Université René Descartes 75014 Paris, FranceRichard D Anderson - Howard Hughes Medical Institute and Department of Physiology and Biophysics University of Iowa College of Medicine Iowa City, Iowa 52242 USALeland E Lim - Howard Hughes Medical Institute and Department of Physiology and Biophysics University of Iowa College of Medicine Iowa City, Iowa 52242 USAJane C Lee - Howard Hughes Medical Institute and Department of Physiology and Biophysics University of Iowa College of Medicine Iowa City, Iowa 52242 USAFernando M.S Tomé - Institut National de la Santé et de la Recherche Médicale Unité 153 and Centre National de la Recherche Scientifique 17, rue du Fer-à-Moulin 75005 Paris, FranceNorma B Romero - Institut National de la Santé et de la Recherche Médicale Unité 153 and Centre National de la Recherche Scientifique 17, rue du Fer-à-Moulin 75005 Paris, FranceMichel Fardeau - Institut National de la Santé et de la Recherche Médicale Unité 153 and Centre National de la Recherche Scientifique 17, rue du Fer-à-Moulin 75005 Paris, FranceJacques S Beckmann - Centre d'Études du Polymorphisme Humain 75010 Paris, FranceJean-Claude Kaplan - Institut National de la Santé et de la Recherche Médicale Unité 129 and Laboratoire de Biochimie Génétique Centre Hospitalier Universitaire Cochin Université René Descartes 75014 Paris, FranceKevin P Campbell - Howard Hughes Medical Institute and Department of Physiology and Biophysics University of Iowa College of Medicine Iowa City, Iowa 52242 USA
- Resource Type
- Journal article
- Publication Details
- Cell (Cambridge), Vol.78(4), pp.625-633
- Publisher
- Elsevier Inc
- DOI
- 10.1016/0092-8674(94)90527-4
- PMID
- 8069911
- ISSN
- 0092-8674
- eISSN
- 1097-4172
- Language
- English
- Date published
- 1994
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute; Obstetrics and Gynecology
- Record Identifier
- 9984020871902771
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