Neuromuscular Disorders · 2010 · 90 citations · 10 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsMolecular PathologyGenetic DisordersMuscular DystrophyCrystallin DisordersCrystallin Gene MutationsSkeletal Myopathy
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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations
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Myotilin is mutated in limb girdle muscular dystrophy 1A
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Distinct muscle imaging patterns in myofibrillar myopathies
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