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165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
Neuromuscul Disord. 2009 Jun;19(6):429-38. doi: 10.1016/j.nmd.2009.04.002. Epub 2009 May 27.
Neuromuscul Disord. 2009.
PMID: 19477645
No abstract available.
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.
Item in Clipboard
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.
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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
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A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.
Duzkale H, et al.
Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.
Clin Genet. 2013.
PMID: 24033266
Free PMC article.
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