A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult
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DOI: 10.1016/j.jocn.2018.04.044
Abstract: We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic… read more here.
Keywords: adult; acta1 mutation; muscle; novel acta1 ... See more keywords