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Journal Article
Research Support, Non-U.S. Gov't
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
European Journal of Human Genetics : EJHG 2004 December
Limb-girdle muscular dystrophy (LGMD) is a genetic disorder characterized by progressive weakness of pelvic and scapular girdles and great clinical variability. It is a highly heterogeneous disease with 16 identified loci: six of them autosomal dominant (AD) (LGMD1) and 10 autosomal recessive (AR) (LGMD2). The responsible genes are known for three of the AD-LGMD and for all 10 AR-LGMD. Linkage analysis excluded these 16 loci in a Brazilian-Caucasian family with 12 patients affected by AD late-onset LGMD associated with progressive fingers and toes flexion limitation. Biceps muscle biopsy from one of the patients showed a predominantly myopathic histopathological pattern, associated with rimmed vacuoles. A genomewide scan was performed which mapped a new locus for this disorder at 4p21 with a maximum two-point lod score of 6.62 for marker D4S2964. Flanking markers place this locus between D4S2947 and D4S2409, within an interval of 9 cM. We propose to classify this AD form of LGMD as LGMD1G.
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