A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21

We recently mapped a locus for a new variant of autosomal dominant myopathy (Swedish families) with proximal muscle weakness, early respiratory muscle involvement, and unique muscle biopsy findings to chromosomal region 2q24-31. In this study, a French family with a similar clinical phenotype and pa...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 1999-07, Vol.9 (5), p.308-312
Main Authors: Xiang, Fengqing, Nicolao, Piero, Chapon, Françoise, Edström, Lars, Anvret, Maria, Zhang, Zhiping
Format: Article
Language:English
Subjects:
Chromosome Mapping
Chromosomes, Human, Pair 2 - genetics
DNA - genetics
Dominant
Family Health
Female
France
Genes, Dominant
Genetic Linkage
Genotype
Haplotypes
Humans
Limb girdle
Linkage analysis
Lod Score
Male
Medicin och hälsovetenskap
Muscle dystrophy
Muscle Weakness - genetics
Muscle Weakness - pathology
Muscular Diseases - genetics
Muscular Diseases - pathology
Pedigree
Respiratory failure
Respiratory Muscles - pathology
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Summary:We recently mapped a locus for a new variant of autosomal dominant myopathy (Swedish families) with proximal muscle weakness, early respiratory muscle involvement, and unique muscle biopsy findings to chromosomal region 2q24-31. In this study, a French family with a similar clinical phenotype and pathology (muscle biopsy) was investigated to see whether the disease gene associated with the myopathy is mapped to the same region as the one in the Swedish families; however, chromosomal region 2q24-q31 was completely excluded. In order to localise the disease gene for the French family, a genome-wide scan was performed using polymorphic microsatellite markers. A maximum two-point lod score of 2.11 (the highest lod score that can be achieved in this family) was obtained for the markers in the region between D2S1272 and D2S1260, spanning 4 cM. This result suggests that the gene responsible for the French form is likely to be located on chromosome 2q21.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(99)00030-9