Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis

M.Rita Passos-Bueno; Joāo R Oilvelra; Egbert Bakker; Richard D Anderson; Sueli K Marie; Mariz Vainzof; Steven Roberts; Kevin P Campbell; Mayana Zatz

doi:10.1093/hmg/2.11.1945

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Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis

Journal article

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Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis

M.Rita Passos-Bueno, Joāo R Oilvelra, Egbert Bakker, Richard D Anderson, Sueli K Marie, Mariz Vainzof, Steven Roberts, Kevin P Campbell and Mayana Zatz

Human molecular genetics, Vol.2(11), pp.1945-1947

1993

DOI: 10.1093/hmg/2.11.1945

PMID: 8281158

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Abstract

Duchenne-like muscular dystrophy (DLMD) is an autosomal recessive (AR) muscular dystrophy which presents a clinical course Indistinguishable from the Xp21 Duchenne muscular dystrophy or DMD. Recently, Othmane et al. (11), based on a linkage study with 13q12 markers in 3 highly inbred DLMD families from Tunisia, suggested that the gene for this myopathy lies in the pericentromeric region of chromosome 13q. It is unknown if there is genetic heterogeneity causing the DLMD phenotype. Therefore, the aim of the present report is to describe the results of linkage analysis in 4 Brazillan DLMD families with 13q12 markers (D13S115 and D13S120), which were also tested for 50DAG. It was possible to exclude the 13q gene at θ = 0.10 as responsible for the DLMD phenotype in our families using both 13q12 markers, if the lod scores of each family were added up. Interestingly, 3 families were deficient for 50 DAG while one showed a positive pattern for this glycoproteln. Therefore, these results suggest: a) the DLMD phenotype is caused by more than one recessive gene; b) a gene, not located at 13q, causes deficiency of 50 DAG as a primary or secondary defect.

Details

Title: Subtitle: Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis
Creators: M.Rita Passos-Bueno
Joāo R Oilvelra
Egbert Bakker
Richard D Anderson
Sueli K Marie
Mariz Vainzof
Steven Roberts
Kevin P Campbell
Mayana Zatz
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.2(11), pp.1945-1947
DOI: 10.1093/hmg/2.11.1945
PMID: 8281158
ISSN: 0964-6906
eISSN: 1460-2083
Language: English
Date published: 1993
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068266902771

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