A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
| Autor: | Ibrahim Mahjneh, Sharon Keers, Rumaisa Bashir, Anthea Stephenson, Tom Strachan, G. Marconi, Lina Nashef, K. Bushby |
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| Rok vydání: | 1994 |
| Předmět: |
Adult
Male Adolescent Genetic Linkage Locus (genetics) Genes Recessive Biology Muscular Dystrophies Consanguinity Genetic linkage Genetics medicine Humans Muscular dystrophy Child Molecular Biology Genetics (clinical) Chromosome 13 Aged Chromosome Mapping General Medicine Middle Aged medicine.disease Pedigree Sarcoglycanopathy Phenotype Child Preschool Chromosomes Human Pair 2 Female Lod Score Sex linkage Sarcoglycanopathies Limb-girdle muscular dystrophy |
| Zdroj: | Human molecular genetics. 3(3) |
| ISSN: | 0964-6906 |
| Popis: | The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred families of different ethnic origin and excluded linkage to LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkage search, we have now identified linkage to markers D2S134 and D2S136 on chromosome 2p (maximum lod score 3.57 at zero recombination). The phenotype in the two families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. This work identifies a second locus for autosomal recessive limb-girdle muscular dystrophy. |
| Databáze: | OpenAIRE |
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