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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.
Acta Neuropathol. 2019.
PMID: 30701273
Free PMC article.
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
Jirka C, Pak JH, Grosgogeat CA, Marchetii MM, Gupta VA.
Jirka C, et al. Among authors: grosgogeat ca.
Hum Mol Genet. 2019 Aug 1;28(15):2549-2560. doi: 10.1093/hmg/ddz078.
Hum Mol Genet. 2019.
PMID: 30986853
Free PMC article.
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