Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Journal of neuromuscular diseases(2020)
摘要
Our cohort confirms the wide clinical variability and enlarge the genetic spectrum of ANO5-related myopathies.
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关键词
ANO5, limb-girdle muscular dystrophy R12 anoctamin5-related, miyoshi muscular dystrophy 3, hyperCKemia
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