Journal article
Primary adhalinopathy (α-sarcoglycanopathy) : Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
Neurology, Vol.48(5), pp.1227-1234
1997
DOI: 10.1212/WNL.48.5.1227
PMID: 9153448
Abstract
Primary adhalin (or alpha-sarcoglycan) deficiency due to a defect of the adhalin gene localized on chromosome 17q21 causes an autosomal recessive myopathy. We evaluated 20 patients from 15 families (12 from Europe and three from North Africa) with a primary adhalin deficiency with two objectives: characterization of the clinical phenotype and analysis of the correlation with the level of adhalin expression and the type of gene mutation. Age at onset and severity of the myopathy were heterogeneous: six patients were wheel-chair bound before 15 years of age, whereas five other patients had mild disease with preserved ambulation in adulthood. The clinical pattern was similar in all the patients with symmetric characteristic involvement of trunk and limb muscles, calf hypertrophy, and absence of cardiac dysfunction. Immunofluorescence and immunoblot studies of muscle biopsy specimens showed a large variation in the expression of adhalin. The degree of adhalin deficiency was fairly correlated with the clinical severity. There were 15 different mutations (10 missense, five null). Double null mutations (three patients) were associated with severe myopathy, but in the other cases (null/missense and double missense) there was a large variation in the severity of the disease
Details
- Title: Subtitle
- Primary adhalinopathy (α-sarcoglycanopathy) : Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
- Creators
- B EYMARD - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceN. B ROMERO - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceL MERLINI - Instituto Ortopedico Rizzoli, Bologna, ItalyC THEMAR-NOËL - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceI PENISSON - CHU, Angers, FranceM MAYER - Hôpital Saint Vincent de Paul, Paris, FranceO TANGUY - CHU, Clermont-Ferrand, FranceK. P CAMPBELL - Howard Hughes Medical Institute and Department of Physiology and Biophsics, University of Iowa College of Medicine, Iowa City, IA, United StatesJ. C KAPLAN - INSERM U 129 & Hôpital Cochin, Paris, FranceF. M. S TOME - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceM FARDEAU - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceF LETURCQ - INSERM U 129 & Hôpital Cochin, Paris, FranceF PICCOLO - INSERM U 129 & Hôpital Cochin, Paris, FranceA CARRIE - INSERM U 129 & Hôpital Cochin, Paris, FranceM JEANPIERRE - INSERM U 129 & Hôpital Cochin, Paris, FranceH COLLIN - INSERM U 153, Institut de Myologie, Hôpital de la Salpêtrière, Paris, FranceN DEBURGRAVE - INSERM U 129 & Hôpital Cochin, Paris, FranceK AZIBI - Hopital Bologhine, Alger, AlgeriaM CHAOUCH - Hopital Ben-Aknoun, Alger, Algeria
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.48(5), pp.1227-1234
- Publisher
- Lippincott Williams & Wilkins; Hagerstown, MD
- DOI
- 10.1212/WNL.48.5.1227
- PMID
- 9153448
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 1997
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020613002771
Metrics
13 Record Views