Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generati...
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Nemaline myopathy (NM) is a congenital muscle disease associated with weakness and the presence of nemaline bodies (rods) in muscle fibers. Mutations in seven genes have been associated with NM, but the most commonly mutated gene is nebulin (NEB), which is thought to account for roughly 50% of cases.
We describe two siblings with severe NM, arth...
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Full title
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_ca3b36368dcd44e68488c15db250c07a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ca3b36368dcd44e68488c15db250c07a
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ISSN
2044-5040
E-ISSN
2044-5040
DOI
10.1186/2044-5040-1-23
