Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Kirsi J. Kiiski; Vilma-Lotta Lehtokari; Anna K. Vihola; Jenni M. Laitila; Sanna Huovinen; Lydia J. Sagath; Anni E. Evilä; Anders E. Paetau; Caroline A. Sewry; Peter B. Hackman; Katarina B. Pelin; Carina Wallgren-Pettersson; Bjarne Udd

doi:10.1016/j.nmd.2018.12.007

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Kirsi J. Kiiski, Vilma-Lotta Lehtokari, Anna K. Vihola, Jenni M. Laitila, Sanna Huovinen, Lydia J. Sagath, Anni E. Evilä, Anders E. Paetau, Caroline A. Sewry, Peter B. Hackman, Katarina B. Pelin, Carina Wallgren-Pettersson, Bjarne Udd

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

Original language	English
Journal	Neuromuscular Disorders
Volume	29
Issue number	2
Pages (from-to)	97-107
Number of pages	11
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2018.12.007
Publication status	Published - Feb 2019
MoE publication type	A1 Journal article-refereed

Fields of Science

Dominant nemaline myopathy
Distal myopathy
Cap myopathy
Nebulin
Nemaline myopathy-CGH Array
ALPHA-ACTIN GENE
CONGENITAL MYOPATHY
CAP MYOPATHY
MUTATIONS
IDENTIFICATION
DISEASE
RODS
MYOSIN
3112 Neurosciences
3124 Neurology and psychiatry

Access to Document

10.1016/j.nmd.2018.12.007

1_s2.0_S0960896618305637_mainAccepted author manuscript, 1.09 MBLicence: CC BY-NC-ND
1-s2.0-S0960896618305637-mainFinal published version, 3.29 MB
Dominantly inherited distal nemaline cap myopathy caused by a large deletion in the nebulin geneProof, 3.26 MB

Cite this

Kiiski, K. J., Lehtokari, V.-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C., & Udd, B. (2019). Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscular Disorders, 29(2), 97-107. https://doi.org/10.1016/j.nmd.2018.12.007

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keywords = "Dominant nemaline myopathy, Distal myopathy, Cap myopathy, Nebulin, Nemaline myopathy-CGH Array, ALPHA-ACTIN GENE, CONGENITAL MYOPATHY, CAP MYOPATHY, MUTATIONS, IDENTIFICATION, DISEASE, RODS, MYOSIN, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Kiiski, {Kirsi J.} and Vilma-Lotta Lehtokari and Vihola, {Anna K.} and Laitila, {Jenni M.} and Sanna Huovinen and Sagath, {Lydia J.} and Evil{\"a}, {Anni E.} and Paetau, {Anders E.} and Sewry, {Caroline A.} and Hackman, {Peter B.} and Pelin, {Katarina B.} and Carina Wallgren-Pettersson and Bjarne Udd",

year = "2019",

month = feb,

doi = "10.1016/j.nmd.2018.12.007",

language = "English",

volume = "29",

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journal = "Neuromuscular Disorders",

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T1 - Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

AU - Kiiski, Kirsi J.

AU - Lehtokari, Vilma-Lotta

AU - Vihola, Anna K.

AU - Laitila, Jenni M.

AU - Huovinen, Sanna

AU - Sagath, Lydia J.

AU - Evilä, Anni E.

AU - Paetau, Anders E.

AU - Sewry, Caroline A.

AU - Hackman, Peter B.

AU - Pelin, Katarina B.

AU - Wallgren-Pettersson, Carina

AU - Udd, Bjarne

PY - 2019/2

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KW - Dominant nemaline myopathy

KW - Distal myopathy

KW - Cap myopathy

KW - Nebulin

KW - Nemaline myopathy-CGH Array

KW - ALPHA-ACTIN GENE

KW - CONGENITAL MYOPATHY

KW - CAP MYOPATHY

KW - MUTATIONS

KW - IDENTIFICATION

KW - DISEASE

KW - RODS

KW - MYOSIN

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.nmd.2018.12.007

DO - 10.1016/j.nmd.2018.12.007

M3 - Article

SN - 0960-8966

VL - 29

SP - 97

EP - 107

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 2

ER -