Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer; Hannah R. Elliott; Helen Griffin; Rita Barresi; James Miller; Julie Marsh; Anni Evilä; Anna Vihola; Peter Hackman; Volker Straub; David J. Dick; Rita Horvath; Mauro Santibanez-Koref; Bjarne Udd; Patrick F. Chinnery

doi:10.1093/brain/aws102

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, David J. Dick, Rita Horvath, Mauro Santibanez-Koref, Bjarne Udd, Patrick F. Chinnery

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

Original language	English
Journal	Brain : a journal of neurology
Volume	135
Pages (from-to)	1695-1713
Number of pages	19
ISSN	0006-8950
DOIs	https://doi.org/10.1093/brain/aws102
Publication status	Published - 2012
MoE publication type	A1 Journal article-refereed

Fields of Science

hereditary myopathy with early respiratory failure
cytoplasmic body
titin
exome sequencing
distal myopathy
CYTOPLASMIC BODY MYOPATHY
AUTOSOMAL-DOMINANT MYOPATHY
TIBIAL MUSCULAR-DYSTROPHY
C-TERMINAL TITIN
DILATED CARDIOMYOPATHY
DISTAL MYOPATHY
KINASE DOMAIN
GENE
SEQUENCE
INVOLVEMENT
3124 Neurology and psychiatry

Access to Document

10.1093/brain/aws102

Cite this

Pfeffer, G., Elliott, H. R., Griffin, H., Barresi, R., Miller, J., Marsh, J., Evilä, A., Vihola, A., Hackman, P., Straub, V., Dick, D. J., Horvath, R., Santibanez-Koref, M., Udd, B., & Chinnery, P. F. (2012). Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain : a journal of neurology, 135, 1695-1713. https://doi.org/10.1093/brain/aws102

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keywords = "hereditary myopathy with early respiratory failure, cytoplasmic body, titin, exome sequencing, distal myopathy, CYTOPLASMIC BODY MYOPATHY, AUTOSOMAL-DOMINANT MYOPATHY, TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, DILATED CARDIOMYOPATHY, DISTAL MYOPATHY, KINASE DOMAIN, GENE, SEQUENCE, INVOLVEMENT, 3124 Neurology and psychiatry",

author = "Gerald Pfeffer and Elliott, {Hannah R.} and Helen Griffin and Rita Barresi and James Miller and Julie Marsh and Anni Evil{\"a} and Anna Vihola and Peter Hackman and Volker Straub and Dick, {David J.} and Rita Horvath and Mauro Santibanez-Koref and Bjarne Udd and Chinnery, {Patrick F.}",

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doi = "10.1093/brain/aws102",

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AU - Pfeffer, Gerald

AU - Elliott, Hannah R.

AU - Griffin, Helen

AU - Barresi, Rita

AU - Miller, James

AU - Marsh, Julie

AU - Evilä, Anni

AU - Vihola, Anna

AU - Hackman, Peter

AU - Straub, Volker

AU - Dick, David J.

AU - Horvath, Rita

AU - Santibanez-Koref, Mauro

AU - Udd, Bjarne

AU - Chinnery, Patrick F.

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KW - AUTOSOMAL-DOMINANT MYOPATHY

KW - TIBIAL MUSCULAR-DYSTROPHY

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KW - DISTAL MYOPATHY

KW - KINASE DOMAIN

KW - GENE

KW - SEQUENCE

KW - INVOLVEMENT

KW - 3124 Neurology and psychiatry

U2 - 10.1093/brain/aws102

DO - 10.1093/brain/aws102

M3 - Article

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JF - Brain : a journal of neurology

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