A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis
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DOI: 10.1111/cge.12888
Abstract: We present three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1. All patients had a mild, late onset TAM revealed by asymptomatic… read more here.
Keywords: congenital miosis; late onset; mutation; mutation orai1 ... See more keywords