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

Lookup NU author(s): Professor Giorgio TascaORCiD

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Abstract

© American Academy of Neurology.ObjectiveTo identify the genetic defect causing a distal calf myopathy with cores.MethodsFamilies with a genetically undetermined calf-predominant myopathy underwent detailed clinical evaluation, including EMG/nerve conduction studies, muscle biopsy, laboratory investigations, and muscle MRI. Next-generation sequencing and targeted Sanger sequencing were used to identify the causative genetic defect in each family.ResultsA novel deletion-insertion mutation in ryanodine receptor 1 (RYR1) was found in the proband of the index family and segregated with the disease in 6 affected relatives. Subsequently, we found 2 more families with a similar calf-predominant myopathy segregating with unique RYR1-mutated alleles. All patients showed a very slowly progressive myopathy without episodes of malignant hyperthermia or rhabdomyolysis. Muscle biopsy showed cores or core-like changes in all families.ConclusionsOur findings expand the spectrum of RYR1-related disorders to include a calf-predominant myopathy with core pathology and autosomal dominant inheritance. Two families had unique and previously unreported RYR1 mutations, while affected persons in the third family carried 2 previously known mutations in the same dominant allele.

Publication metadata

Author(s): Jokela M, Tasca G, Vihola A, Mercuri E, Jonson P-H, Lehtinen S, Valipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2019

Volume: 92

Issue: 14

Pages: E1600-E1609

Print publication date: 02/04/2019

Online publication date: 06/03/2019

Acceptance date: 28/02/2018

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams and Wilkins

URL: https://doi.org/10.1212/WNL.0000000000007246

DOI: 10.1212/WNL.0000000000007246

PubMed id: 30842289

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