A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

Clinical genetic evidence suggests the existence of an autosomal recessive form of congenital nemaline myopathy in addition to the autosomal dominant one(s). One mutation in an Australian kindred has been identified as causing an autosomal dominant form of the disease. This mutation in the alpha-tro...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD Vol. 5; no. 6; pp. 441 - 443
Main Authors: Wallgren-Pettersson, C., Avela, K., Marchand, S., Kolehmainen, J., Tahvanainen, E., Hansen, F.Juul, Muntoni, F., Dubowitz, V., de Visser, M., van Langen, I.M., Laing, Nigel G., Fauré, S., de la Chapelle, A.
Format: Journal Article
Language:English
Published: England Elsevier B.V 01-11-1995
Subjects:
Australia
autosomal recessive
Chromosomes, Human, Pair 2
Congenital myopathy
Genes, Recessive
Genetic Linkage - genetics
genetic location
Humans
linkage analysis
Microsatellite Repeats
Myopathies, Nemaline - genetics
nemaline (rod) myopathy
Recombination, Genetic
Tropomyosin - genetics
Australia
Congenital myopathy
genetic location
linkage analysis
nemaline (rod) myopathy
autosomal recessive
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Summary:Clinical genetic evidence suggests the existence of an autosomal recessive form of congenital nemaline myopathy in addition to the autosomal dominant one(s). One mutation in an Australian kindred has been identified as causing an autosomal dominant form of the disease. This mutation in the alpha-tropomyosin gene TPM3 has previously been excluded as causing autosomal recessive nemaline myopathy. We searched systematically for genetic linkage to autosomal recessive nemaline myopathy (NEM2) by studying microsatellite marker alleles in seven multiplex families from Finland, Denmark, Wales, England and The Netherlands. Significant evidence of linkage was found to markers on chromosome 2q, the highest multipoint lod score value being 5.34 for the marker D2S151. Recombinant genotypes in affected individuals demarcate the region in which the NEM2 gene is likely to reside as a 13 cM region between the markers 132S150 and D2Sl42. These results confirm the existence of at least one distinctive form of autosomal recessive nemaline myopathy and provide a basis for the identification of its gene.
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ISSN:0960-8966
1873-2364
DOI:10.1016/0960-8966(95)00022-F