Article
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
Neuromuscular disorders : NMD - 1 Dec 2014
Ten Dam Leroy, van der Kooi Anneke J, Rövekamp Fleur, Linssen Wim H J P, de Visser Marianne
Abstract excerpt
In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects. MMD3 and LGMD2L are clinically different diseases caused by an ANO5 gene defect. All groups showed predominant fatty...
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