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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
Nature Genetics, Volume 10, No. 2, Year 1995
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Description
Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein1–3, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD)4. This is a Duchenne-like disease affecting both males and females first described in Tunisian families5, 6. Adhalin deficiency has been found in SCARMD patients from North Africa4, 7, 8 Europe9, Brazil10, Japan11, 12 and North America (SLR & KPC, unpublished data). The disease was initially linked to an unidentified gene on chromosome 13 in families from North Africa7, 13, and to the adhalin gene itself on chromosome 17q in one French family in which missense mutations were identified14. Thus there are two kinds of myopathies with adhalin deficiency: One with a primary defect of adhalin (primary adhalinopathies), and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa. Disease severity varies in age of onset and rate of progression, and patients with null mutations are the most severely affected. © 1995 Nature Publishing Group.
Authors & Co-Authors
Piccolo, F.
France, Paris
Inserm
Roberds, S. L.
United States, Iowa City
University of Iowa Carver College of Medicine
Jeanpierre, M.
France, Paris
Inserm
Leturcq, France
France, Paris
Inserm
Azibi, Kemal
Algeria, Algiers
Hôpital de Bologhine
Beldjord, Chérif
France, Paris
Inserm
Carrié, Alain
France, Paris
Inserm
Récan, D.
France, Paris
Inserm
Chaouch, Malika
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Reghis, Abderrezak
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
El-Kerch, Fatiha
Morocco, Agdal Rabat
Institut National D'hygiène
Sefiani, Abdelaziz
Morocco, Agdal Rabat
Institut National D'hygiène
Voit, Thomas
Germany, Essen
Universitätsklinikum Essen
Merlini, Luciano
Italy, Bologna
Irccs Rizzoli Orthopaedic Institute, Bologna
Collin, Huguette
France, Paris
Inserm
Eymard, Bruno
France, Paris
Inserm
Beckmann, Jacques S.
France, Evry
Généthon
Roméro, Norma Beatriz
France, Paris
Hôpital Robert-debré Ap-hp
Tomé, Fernando M.S.
France, Paris
Inserm
Fardeau, Michael
France, Paris
Inserm
Campbell, Kevin P.
United States, Iowa City
University of Iowa Carver College of Medicine
Kaplan, Jean Claude
France, Paris
Inserm
Statistics
Citations: 197
Authors: 22
Affiliations: 10
Identifiers
Doi:
10.1038/ng0695-243
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health
Study Locations
Multi-countries
Participants Gender
Female