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4. Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. Kim SY; Park YE; Kim HS; Lee CH; Yang DH; Kim DS J Neurol Sci; 2011 Aug; 307(1-2):171-3. PubMed ID: 21570694 [TBL] [Abstract][Full Text] [Related]
5. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Schröder JM; Durling H; Laing N Acta Neuropathol; 2004 Sep; 108(3):250-6. PubMed ID: 15221331 [TBL] [Abstract][Full Text] [Related]
6. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. Levesque L; Del Bigio MR; Krawitz S; Mhanni AA Neuromuscul Disord; 2013 Mar; 23(3):239-42. PubMed ID: 23305948 [TBL] [Abstract][Full Text] [Related]
7. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Koy A; Ilkovski B; Laing N; North K; Weis J; Neuen-Jacob E; Mayatepek E; Voit T Neuropediatrics; 2007 Dec; 38(6):282-6. PubMed ID: 18461503 [TBL] [Abstract][Full Text] [Related]
8. Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). Ohlsson M; Tajsharghi H; Darin N; Kyllerman M; Oldfors A Neuromuscul Disord; 2004 Sep; 14(8-9):471-5. PubMed ID: 15336687 [TBL] [Abstract][Full Text] [Related]
9. Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. Kawase K; Nishino I; Sugimoto M; Kouwaki M; Koyama N; Yokochi K Brain Dev; 2015 Feb; 37(2):265-9. PubMed ID: 24787270 [TBL] [Abstract][Full Text] [Related]
10. Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods. Donkervoort S; Chan SHS; Hayes LH; Bradley N; Nguyen D; Leach ME; Mohassel P; Hu Y; Thangarajh M; Bharucha-Goebel D; Kan A; Ho RSL; Reyes CA; Nance J; Moore SA; Foley AR; Bönnemann CG Neuromuscul Disord; 2017 Jun; 27(6):531-536. PubMed ID: 28416349 [TBL] [Abstract][Full Text] [Related]
11. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance. Ravenscroft G; Wilmshurst JM; Pillay K; Sivadorai P; Wallefeld W; Nowak KJ; Laing NG Neuromuscul Disord; 2011 Jan; 21(1):31-6. PubMed ID: 20850316 [TBL] [Abstract][Full Text] [Related]
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