nemaline cardiomyopathy
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Synopsis
Etiology
germline mutations in genes
- ACTA1
- TPM3
See also
nemaline myopathy
References
D’Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord. 2006 Oct;16(9-10):548-52. PMID: 16945537
Gomes AV, Barnes JA, Harada K, Potter JD. Mol Cell Biochem. 2004 Aug;263(1-2):115-29. PMID: 15524172
Durling HJ, Reilich P, Muller-Hocker J, Mendel B, Pongratz D, Wallgren-Pettersson C, Gunning P, Lochmuller H, Laing NG. De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul Disord. 2002 Dec;12(10):947-51. PMID: 12467750
Skyllouriotis ML, Marx M, Skyllouriotis P, Bittner R, Wimmer M. Nemaline myopathy and cardiomyopathy. Pediatr Neurol. 1999 Apr;20(4):319-21. PMID: 10328285