Article
Functional muscle analysis of the Tcap knockout mouse.
Human molecular genetics - 1 Jun 2010
Markert C D, Meaney M P, Voelker K A, Grange R W, Dalley H W, Cann J K, Ahmed M, Bishwokarma B, Walker S J, Yu S X, Brown M, Lawlor M W, Beggs A H, Childers M K
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is an adult-onset myopathy characterized by distal lower limb weakness, calf hypertrophy and progressive decline in ambulation. The disease is caused by mutations in Tcap, a z-disc protein of skeletal muscle, although the precise mechanisms resulting in clinical symptoms are unknown. To provide a model for preclinical trials and for mechanistic...
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