Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
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DOI: 10.1016/j.nmd.2018.12.001
Abstract: In a previous report of a new phenotype with predominant scapulo-humeral-peroneal-distal myopathy associated with the Glu197Asp mutation in ACTA1, muscle biopsies did not show nemaline rods, nor could nemaline rods formation be demonstrated in an… read more here.
Keywords: nemaline rods; glu197asp mutation; distal myopathy; mutation acta1 ... See more keywords