Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
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DOI: 10.1016/j.nmd.2019.06.005
Abstract: Recessive mutations in anoctamin-5 (ANO5) are responsible for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy. ANO5 mutations are prevalent in European countries, however it is not common in patients of Asian origin… read more here.
Keywords: gene mutations; chinese cohort; spectrum gene; mutations chinese ... See more keywords