Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
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DOI: 10.3233/jnd-180350
Abstract: TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X,… read more here.
Keywords: trim63; cardiac hypertrophy; skeletal myopathy; nonsense mutation ... See more keywords