Genetic heterogeneity in Miyoshi-type distal muscular dystrophy
| Autor: | J. P. Vreyling, M. de Visser, W. H. J. P. Linssen, J.H.J. Wokke, Frank Baas, Pieter A. Bolhuis, P.A. van Doorn, Nicolette C. Notermans |
|---|---|
| Přispěvatelé: | Neurology, Other departments |
| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Genetic Linkage Locus (genetics) Pedigree chart Biology Genome Muscular Dystrophies Genetic Heterogeneity Genetic linkage Progressive disorder medicine Humans Muscular dystrophy Genetics (clinical) Genetics Genetic heterogeneity Chromosome Mapping Middle Aged medicine.disease Pedigree Neurology Chromosomes Human Pair 2 Pediatrics Perinatology and Child Health Female Neurology (clinical) Distal muscular dystrophy Microsatellite Repeats |
| Zdroj: | Neuromuscular Disorders, 8, 317-320. Elsevier Ltd. Neuromuscular disorders, 8(5), 317-320. Elsevier Limited |
| ISSN: | 0960-8966 |
| Popis: | Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12–14. In this study three of four MMD pedigrees show non-linkage to the region spanned by D2S134–D2S358–D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD. |
| Databáze: | OpenAIRE |
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