Journal article
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
Annals of neurology, Vol.42(2), pp.222-229
08/1997
DOI: 10.1002/ana.410420214
PMID: 9266733
Abstract
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogenous group of diseases involving at least six different loci. Five genes have already been identified: calpain‐3 at LGMDA2A (15q15), and four members of the sarcoglycan (SG) complex, α‐SG at LGMD2D (17q21), β‐SG at LGMD2A (4q12), γ‐SG at LGMD2C (13q12), and dL‐SG at LGMD2F (5q33–q34). The gene product at LGMD2B (2p13–p16) is still unknown and at least one other gene is still unmapped. We investigated 20 Turkish families (18 consanguineous) diagnosed as having LGMD2. Most of our patients had onset of symptoms before age 10. The phenotypes varied from severe to benign. We analyzed the SG complex by immunofluorescence and/or western blot. Genotyping was performed using markers defining the six known loci and the suspected genes were screened for mutations. Six of 17 index cases showed deficiency of the SG complex, by immunofluorescence and/or western blot. Seven cases involved on e of the known genes of the SG complex (α, 2; β, 1; and γ, 4 cases), and five mutations were documented in the α‐ and γ‐SG genes. After linkage analysis, 10 families were characterized as having LGMD2A (calpain‐3 deficiency), and all mutations were eventually identified. One family was classified as having LGMD2B and 1 family that has normal SGs was linked to the chromosome 5q33–q34 locus (LGMD2F). In 1 family there was no linkage to any of the known LGMD2 loci. It appears that in Turkey, there is a broad spectrum of genes and defects involved in LGMD2. It may be possible to correlate genotype to phenotype in LGMD2. All severe cases belonged to the γ‐SG–deficiency group. Nine calpain‐3–deficient cases had intermediate and 1 had moderate clinical courses. The LGMD2B patient had a moderate clinical expression, whereas the LGMD2F case was truly benign.
Details
- Title: Subtitle
- A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
- Creators
- Pervin DincerFrance LeturcqIsabelle RichardFederica PiccoloDilek YalnizoàluClaudia De TomaZuhal AkçörenOdile BrouxNathalie DeburgraveLydie BrenguierCarinne RoudautJ. Andoni UrtizbereaDaniel JungErsin TanMarc JeanpierreKevin P CampbellJean-Claude KaplanJacques S BeckmannHaluk Topaloàlu
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.42(2), pp.222-229
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; Hoboken
- DOI
- 10.1002/ana.410420214
- PMID
- 9266733
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Number of pages
- 8
- Language
- English
- Date published
- 08/1997
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020861702771
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