Distal myopathy, Tateyama type
Definition:
Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.
References:
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[1]. M Tateyama, et al. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. [Content Brief]
[2]. Paloma González-Pérez, et al. Phenotypic variability in a Spanish family with a Caveolin-3 mutation. J Neurol Sci. 2009 Jan 15;276(1-2):95-8. [Content Brief]
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