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

doi:10.1212/WNL.0000000000007246

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 journal › Article › Scientific › peer-review

Original language	English
Journal	Neurology
Volume	92
Issue number	14
Pages (from-to)	E1600-E1609
Number of pages	10
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0000000000007246
Publication status	Published - 2 Apr 2019
MoE publication type	A1 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

Access to Document

10.1212/WNL.0000000000007246

RYR1 calf myopathy manuscriptAccepted author manuscript, 557 KB

Cite this

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, 92(14), E1600-E1609. https://doi.org/10.1212/WNL.0000000000007246

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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

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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

SN - 0028-3878

VL - 92

SP - E1600-E1609

JO - Neurology

JF - Neurology

IS - 14

ER -