An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

Manu Jokela, Giorgio Tasca, Anna Vihola, Eugenio Mercuri, Per-Harald Jonson, Sara Lehtinen, Salla Välipakka, Marika Pane, Maria Donati, Mridul Johari, Marco Savarese, Sanna Huovinen, Pirjo Isohanni, Johanna Palmio, Päivi Hartikainen, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNeurology
Volume92
Issue number14
Pages (from-to)E1600-E1609
Number of pages10
ISSN0028-3878
DOIs
Publication statusPublished - 2 Apr 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • CENTRAL CORE DISEASE
  • CONGENITAL MYOPATHY
  • RYR1-RELATED MYOPATHIES
  • RECESSIVE MUTATIONS
  • COMMON-CAUSE
  • GENE
  • DOMINANT
  • DEPLETION
  • MYALGIA
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry

Cite this

Jokela, Manu ; Tasca, Giorgio ; Vihola, Anna ; Mercuri, Eugenio ; Jonson, Per-Harald ; Lehtinen, Sara ; Välipakka, Salla ; Pane, Marika ; Donati, Maria ; Johari, Mridul ; Savarese, Marco ; Huovinen, Sanna ; Isohanni, Pirjo ; Palmio, Johanna ; Hartikainen, Päivi ; Udd, Bjarne. / An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy. In: Neurology. 2019 ; Vol. 92, No. 14. pp. E1600-E1609.
@article{046c58e8c8074aea83fb2b8e7cdd8c6b,
title = "An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy",
keywords = "CENTRAL CORE DISEASE, CONGENITAL MYOPATHY, RYR1-RELATED MYOPATHIES, RECESSIVE MUTATIONS, COMMON-CAUSE, GENE, DOMINANT, DEPLETION, MYALGIA, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Manu Jokela and Giorgio Tasca and Anna Vihola and Eugenio Mercuri and Per-Harald Jonson and Sara Lehtinen and Salla V{\"a}lipakka and Marika Pane and Maria Donati and Mridul Johari and Marco Savarese and Sanna Huovinen and Pirjo Isohanni and Johanna Palmio and P{\"a}ivi Hartikainen and Bjarne Udd",
year = "2019",
month = "4",
day = "2",
doi = "10.1212/WNL.0000000000007246",
language = "English",
volume = "92",
pages = "E1600--E1609",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott williams & wilkins",
number = "14",

}

Jokela, M, Tasca, G, Vihola, A, Mercuri, E, Jonson, P-H, Lehtinen, S, Välipakka, S, Pane, M, Donati, M, Johari, M, Savarese, M, Huovinen, S, Isohanni, P, Palmio, J, Hartikainen, P & Udd, B 2019, 'An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy', Neurology, vol. 92, no. 14, pp. E1600-E1609. https://doi.org/10.1212/WNL.0000000000007246

An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy. / Jokela, Manu; Tasca, Giorgio; Vihola, Anna; Mercuri, Eugenio; Jonson, Per-Harald; Lehtinen, Sara; Välipakka, Salla; Pane, Marika; Donati, Maria; Johari, Mridul; Savarese, Marco; Huovinen, Sanna; Isohanni, Pirjo; Palmio, Johanna; Hartikainen, Päivi; Udd, Bjarne.

In: Neurology, Vol. 92, No. 14, 02.04.2019, p. E1600-E1609.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

AU - Jokela, Manu

AU - Tasca, Giorgio

AU - Vihola, Anna

AU - Mercuri, Eugenio

AU - Jonson, Per-Harald

AU - Lehtinen, Sara

AU - Välipakka, Salla

AU - Pane, Marika

AU - Donati, Maria

AU - Johari, Mridul

AU - Savarese, Marco

AU - Huovinen, Sanna

AU - Isohanni, Pirjo

AU - Palmio, Johanna

AU - Hartikainen, Päivi

AU - Udd, Bjarne

PY - 2019/4/2

Y1 - 2019/4/2

KW - CENTRAL CORE DISEASE

KW - CONGENITAL MYOPATHY

KW - RYR1-RELATED MYOPATHIES

KW - RECESSIVE MUTATIONS

KW - COMMON-CAUSE

KW - GENE

KW - DOMINANT

KW - DEPLETION

KW - MYALGIA

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1212/WNL.0000000000007246

DO - 10.1212/WNL.0000000000007246

M3 - Article

VL - 92

SP - E1600-E1609

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 14

ER -