A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p |
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Authors: | Bashlr Rumaisa; Strachan Tom; Keers Sharon; Stephenson Anthea; Mahjneh Ibrahim; Marconi Giamplero; Nashef Lina; Bushby Kate M D |
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Institution: | Department of Human Genetics, University of Newcastle upon Tyne 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK
1Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgani, 8550134, Florence, Italy
2Makassed Hospital, Mount of Olives Jerusalem, Israel |
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Abstract: | The limb-girdle muscular dystrophies are a clinically and geneticallyheterogeneous group of disorders. We have ostudied two largeinbred families of different ethnic origin and excluded linkageto LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceedingto a genomic linkage search, we have now identified linkageto markers D2S134 and D2S136 on chromosome 2p (maximum lod score3.57 at zero recombination). The phenotype in the two familieswas similar, with onset in the pelvic girdle musculature inthe late teens and usually relatively slow progression. Thiswork Identifies a second locus for autosomal recessive limb-girdlemuscular dystrophy. |
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