Article
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
Clinical genetics - 1 Aug 2016
Willis T A, Wood C L, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V
Abstract excerpt
Four and a half LIM protein 1 (FHL1/SLIM1) has recently been identified as the causative gene mutated in four distinct diseases affecting skeletal muscle that have overlapping features, including reducing body myopathy, X-linked myopathy, X-linked dominant scapuloperoneal myopathy and Emery-Dreifuss muscular dystrophy. FHL1 localises to the sarcomere and the sarcolemma and is believed to participate in muscle...
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