Journal article
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Human molecular genetics, Vol.4(7), pp.1163-1167
1995
DOI: 10.1093/hmg/4.7.1163
PMID: 8528203
Abstract
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability, classified phenotypically into two main groups, the most severe forms (Duchenne-like muscular dystrophy, DLMD, or severe childhood autosomal recessive muscular dystrophy, SCARMD) and the milder forms. Four genes causing AR LGMD have been mapped: the 15q (LGMD2a), the 2p (LGMD2b), the 13q locus (LGMD2c) and the adhalin gene on chromosome 17q (LGMD2d). In the present report we have performed linkage analysis with 17q markers in three mild AR LGMD and in four DLMD families with adhalin deficiency and unlinked to 2p, 15q or 13q genes. Linkage was observed only among the mild cases. Patients from these three 17q-linked families showed near or total deficiency of adhalin in muscle biopsies. An identical missense mutation was identified in all three 17q-linked unrelated families. These results indicate that AR LGMD with a mild phenotype is caused by mutations in the adhalin gene. In addition, they demonstrate that there is at least one other locus for DLMD associated with adhalin deficiency.
Details
- Title: Subtitle
- A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
- Creators
- M. Rita Passos Bueno - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilE. S MOREIRA - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilM VAINZOF - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilJ CHAMBERLAIN - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilS. K MARIE - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilL PEREIRA - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilJ AKIYAMA - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilS. L ROBERDS - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilK. P CAMPBELL - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, BrazilM ZATZ - Univ. São Paulo, inst. biociênc., dep. biologia, 05508-900 São Paulo, Brazil
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.4(7), pp.1163-1167
- Publisher
- Oxford University Press; Oxford
- DOI
- 10.1093/hmg/4.7.1163
- PMID
- 8528203
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1995
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068267002771
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