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Nemaline myopathies: a current view

1 Jun 2019

Abstract excerpt

Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypotonia, but the spectrum of clinical phenotypes is broad, ranging from severe...

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PMID: 31228046
DOI: 10.1007/s10974-019-09519-9

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