Results 21 -
24
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24
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Distal myopathy
- ... Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. Clin ... skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
- ... M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 ... skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
- ... muscles farthest from the center of the body (distal muscles), such as those of the lower ... National Organization for Rare Disorders ( ...
- ... life.In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness ... O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol. 2007 ...