A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TO CHROMOSOME 2P

被引:179
作者
BASHIR, R
STRACHAN, T
KEERS, S
STEPHENSON, A
MAHJNEH, I
MARCONI, G
NASHEF, L
BUSHBY, KMD
机构
[1] UNIV NEWCASTLE UPON TYNE, DEPT HUMAN GENET, NEWCASTLE UPON TYNE NE2 4AA, ENGLAND
[2] UNIV FLORENCE, DEPT NEUROL & PSYCHIAT SCI, I-50134 FLORENCE, ITALY
[3] MAKASSED HOSP, JERUSALEM, ISRAEL
关键词
D O I
10.1093/hmg/3.3.455
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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收藏
页码:455 / 457
页数:3
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