Welander distal myopathy is not linked to other defined distal myopathy gene loci.
Neuromuscul Disord
; 7(4): 256-60, 1997 Jun.
Article
em En
| MEDLINE
| ID: mdl-9196908
ABSTRACT
Welander distal myopathy is an autosomal dominant disorder with late onset that affects extensor muscles of the hands and the feet. The disorder is considered as the most prevalent of the distal myopathies and is almost only seen in Sweden and in some parts of Finland. On clinical, morphological and genetical grounds the disorder is clearly separated from other distal myopathies. We have performed linkage analysis with the MLINK program in a total of six families with microsatellite markers dispersed throughout the genome and report exclusion for the localisation of the gene of 64% of the human genome. These studies have clearly separated Welander distal myopathy from previously mapped forms of distal myopathy such as the Miyoshi myopathy by excluding linkage to chromosome 2. The region on 14q that has been suggested to house the gene of the distal myopathy described by Laing et al. (Am J Hum Genet 1995;56422-7), has as well been excluded by several markers.
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Base de dados:
MEDLINE
Assunto principal:
Genes Dominantes
/
Ligação Genética
/
Doenças Musculares
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article