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

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNeuromuscular Disorders
Volume29
Issue number2
Pages (from-to)97-107
Number of pages11
ISSN0960-8966
DOIs
Publication statusPublished - Feb 2019
MoE publication typeA1 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

Cite this

@article{17c97f17843e4dde9964fa3d61adcf17,
title = "Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene",
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 = "2",
doi = "10.1016/j.nmd.2018.12.007",
language = "English",
volume = "29",
pages = "97--107",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Scientific Publ. Co",
number = "2",

}

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. / Kiiski, Kirsi J.; Lehtokari, Vilma-Lotta; Vihola, Anna K.; Laitila, Jenni M.; Huovinen, Sanna; Sagath, Lydia J.; Evilä, Anni E.; Paetau, Anders E.; Sewry, Caroline A.; Hackman, Peter B.; Pelin, Katarina B.; Wallgren-Pettersson, Carina; Udd, Bjarne.

In: Neuromuscular Disorders, Vol. 29, No. 2, 02.2019, p. 97-107.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

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

Y1 - 2019/2

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

VL - 29

SP - 97

EP - 107

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 2

ER -