Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Homa Tajsharghi; Simon Hammans; Christopher Lindberg; Alexander Lossos; O Raheem; Nigel F Clarke; Ingrid Mazanti; Leigh B Waddell; Yakov Fellig; Nicola Foulds; Katifi Haidar; Richard Webster; Raheem Olayinka; Bjarne Udd; Argov Zohar; Anders Oldfors

doi:10.1038/ejhg.2013.250

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Homa Tajsharghi, Simon Hammans, Christopher Lindberg, Alexander Lossos, O Raheem, Nigel F Clarke, Ingrid Mazanti, Leigh B Waddell, Yakov Fellig, Nicola Foulds, Katifi Haidar, Richard Webster, Raheem Olayinka, Bjarne Udd, Argov Zohar, Anders Oldfors

Research output: Contribution to journal › Article › Scientific › peer-review

32 Citations (Scopus)

Original language	English
Pages (from-to)	801-8
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	55
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2013.250
Publication status	Published - 2014
Publication type	A1 Journal article-refereed

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Publication forum level 1

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10.1038/ejhg.2013.250

Cite this

Tajsharghi, H., Hammans, S., Lindberg, C., Lossos, A., Raheem, O., Clarke, N. F., Mazanti, I., Waddell, L. B., Fellig, Y., Foulds, N., Haidar, K., Webster, R., Olayinka, R., Udd, B., Zohar, A., & Oldfors, A. (2014). Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations. EUROPEAN JOURNAL OF HUMAN GENETICS, 55(6), 801-8. https://doi.org/10.1038/ejhg.2013.250

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title = "Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations",

author = "Homa Tajsharghi and Simon Hammans and Christopher Lindberg and Alexander Lossos and O Raheem and Clarke, {Nigel F} and Ingrid Mazanti and Waddell, {Leigh B} and Yakov Fellig and Nicola Foulds and Katifi Haidar and Richard Webster and Raheem Olayinka and Bjarne Udd and Argov Zohar and Anders Oldfors",

year = "2014",

doi = "10.1038/ejhg.2013.250",

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Tajsharghi, H, Hammans, S, Lindberg, C, Lossos, A, Raheem, O, Clarke, NF, Mazanti, I, Waddell, LB, Fellig, Y, Foulds, N, Haidar, K, Webster, R, Olayinka, R, Udd, B, Zohar, A & Oldfors, A 2014, 'Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations', EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 55, no. 6, pp. 801-8. https://doi.org/10.1038/ejhg.2013.250

TY - JOUR

T1 - Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

AU - Tajsharghi, Homa

AU - Hammans, Simon

AU - Lindberg, Christopher

AU - Lossos, Alexander

AU - Raheem, O

AU - Clarke, Nigel F

AU - Mazanti, Ingrid

AU - Waddell, Leigh B

AU - Fellig, Yakov

AU - Foulds, Nicola

AU - Haidar, Katifi

AU - Webster, Richard

AU - Olayinka, Raheem

AU - Udd, Bjarne

AU - Zohar, Argov

AU - Oldfors, Anders

PY - 2014

Y1 - 2014

U2 - 10.1038/ejhg.2013.250

DO - 10.1038/ejhg.2013.250

M3 - Article

SN - 1018-4813

VL - 55

SP - 801

EP - 808

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 6

ER -