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Myosinopathies: pathology and mechanisms.
Tajsharghi H, Oldfors A. Tajsharghi H, et al. Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Acta Neuropathol. 2013. PMID: 22918376 Free PMC article. Review.
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
A rare mutation in MYH7 gene occurs with overlapping phenotype.
Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L. Ruggiero L, et al. Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7. Biochem Biophys Res Commun. 2015. PMID: 25576864