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Myopathy, RYR1-associated

MedGen UID:
808163
•Concept ID:
CN221567
•
Disease or Syndrome

Recent clinical studies

Etiology

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.
Yoo SW, Baek SJ, Kim DC, Doo AR
Medicine (Baltimore) 2021 Jun 11;100(23):e25859. doi: 10.1097/MD.0000000000025859. PMID: 34114984Free PMC Article
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G, Kadhim H, Abramowicz M, Mavroudakis N, Monnier N, Lunardi J
Neuromuscul Disord 2015 May;25(5):397-402. Epub 2015 Feb 9 doi: 10.1016/j.nmd.2015.01.016. PMID: 25747005
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG
Neurology 2013 Apr 23;80(17):1584-9. Epub 2013 Apr 3 doi: 10.1212/WNL.0b013e3182900380. PMID: 23553484Free PMC Article

Diagnosis

Mutation in RyR2-FKBP Binding site alters Ca(2+) signaling modestly but increases "arrhythmogenesis" in human stem cells derived cardiomyocytes.
Fernández-Morales JC, Xia Y, Renzo TJ, Zhang XH, Morad M
Cell Calcium 2022 Jan;101:102500. Epub 2021 Nov 8 doi: 10.1016/j.ceca.2021.102500. PMID: 34813985Free PMC Article
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG
Neurology 2018 Jan 30;90(5):e412-e418. Epub 2018 Jan 3 doi: 10.1212/WNL.0000000000004894. PMID: 29298851Free PMC Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J
Hum Mol Genet 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581. PMID: 11709545

Therapy

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.
Yoo SW, Baek SJ, Kim DC, Doo AR
Medicine (Baltimore) 2021 Jun 11;100(23):e25859. doi: 10.1097/MD.0000000000025859. PMID: 34114984Free PMC Article
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article

Prognosis

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
Martin F, Kana V, Mori AC, Fischer D, Parkin N, Boltshauser E, Rushing EJ, Klein A
Eur J Pediatr 2014 Dec;173(12):1691-4. Epub 2014 Apr 8 doi: 10.1007/s00431-014-2314-6. PMID: 24706162

Supplemental Content

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