Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity (original) (raw)
- Letter
- Published: 01 June 1995
- S.L. Roberds2,
- M. Jeanpierre1,
- F. Leturcq1,
- K. Azibi3,
- C. Beldjord1,
- A. Carrié1,
- D. Récan1,
- M. Chaouch4,
- A. Reghis5,
- F. El Kerch6,
- A. Sefiani6,
- T. Voit7,
- L. Merlini8,
- H. Collin9,
- B. Eymard9,
- J.S. Beckmann10,11,
- N.B. Romero12,
- F.M.S. Tomé9,
- M. Fardeau9,
- K.P. Campbell2 &
- …
- J-C. Kaplan1
Nature Genetics volume 10, pages 243–245 (1995)Cite this article
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An Erratum to this article was published on 01 September 1995
Abstract
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has been found in SCARMD patients from North Africa4,7,8 Europe9, Brazil10, Japan11,12 and North America (SLR & KPC, unpublished data).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.
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Authors and Affiliations
- Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René Descartes, 75014, Paris, France
F. Piccolo, M. Jeanpierre, F. Leturcq, C. Beldjord, A. Carrié, D. Récan & J-C. Kaplan - HHMI and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA
S.L. Roberds & K.P. Campbell - Hôpital Bologhine and CHU Alger-Ouest, Algeria
K. Azibi - Hôpital Ben-Aknoun, CHU Alger-Ouest, Algeria
M. Chaouch - CHU Mustapha, Alger, Algeria
A. Reghis - Institut National d'Hygiène, Rabat, Morocco
F. El Kerch & A. Sefiani - Universitäts-Kinderklinik, Essen, Germany
T. Voit - Istituto Ortopedico Rizzoli, Bologna, Italy
L. Merlini - INSERM 153, 17, rue du Fer-à-Moulin, 75005, Paris, France
H. Collin, B. Eymard, F.M.S. Tomé & M. Fardeau - CEPH, 75010, Paris
J.S. Beckmann - Généthon, 91000, Evry, France
J.S. Beckmann - Hôspital Robert Debré, Paris, 75020, France
N.B. Romero
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Piccolo, F., Roberds, S., Jeanpierre, M. et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.Nat Genet 10, 243–245 (1995). https://doi.org/10.1038/ng0695-243
- Received: 07 February 1995
- Accepted: 28 March 1995
- Issue Date: 01 June 1995
- DOI: https://doi.org/10.1038/ng0695-243