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distal myopathy


Definition: myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40 years, with weakness and wasting of small muscles of the hands; The infantile form [MIM*160300] and the Swedish later-onset [MIM*160500] are autosomal dominant. There is a Japanese late-onset type [MIM*254130] that is recessive and is caused by mutation in the gene encoding dysferlin on 2p13.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.