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Published in 2018 at "Journal of Clinical Neuroscience"
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…
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Keywords:
adult;
acta1 mutation;
muscle;
novel acta1 ... See more keywords