RYR1 causing distal myopathy

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. Methods: We report a case of a patient presenting with childhood onset hand stiffness and adult onset progressive hand weakness and jaw contractures discovered to have two variants in the RYR1 gene. Results: The patient manifested with distal upper limb weakness which progressed to involve the distal lower limb, proximal upper limb, as well as the face in addition to limited jaw opening. Creatine kinase was mildly elevated with EMG findings supporting a myopathy. Muscle biopsy showed features consistent with centronuclear myopathy. Whole exome sequencing revealed a novel heterozygous pathogenic variant in RYR1 (c.12315_12328delAGAAATCCAGTTCC, p.Glu4106Alafs*8), and a heterozygous missense variant (c.10648C>T, p.Arg3550Trp) of unknown significance in compound heterozygous state. Conclusion: We expand the spectrum of RYR1-related myopathy with the description of a novel phenotype in an adult patient presenting with hand weakness and suggest considering RYR1 analysis in the diagnosis of distal myopathies.

Original languageEnglish (US)
Pages (from-to)800-804
Number of pages5
JournalMolecular Genetics and Genomic Medicine
Volume5
Issue number6
DOIs
StatePublished - Jan 1 2017

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Distal Myopathies
Hand
Muscular Diseases
Jaw
Upper Extremity
Congenital Structural Myopathies
Myotonia Congenita
Exome
Phenotype
Biopsy
Malignant Hyperthermia
Muscles
Ryanodine Receptor Calcium Release Channel
Muscle Weakness
Contracture
Creatine Kinase
Lower Extremity
Mutation
Genes

Keywords

  • Centronuclear
  • distal myopathy
  • myopathy
  • RYR1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology
  • Medicine(all)

Cite this

RYR1 causing distal myopathy. / Laughlin, Ruple S.; Niu, Zhiyv; Wieben, Eric D; Milone, Margherita.

In: Molecular Genetics and Genomic Medicine, Vol. 5, No. 6, 01.01.2017, p. 800-804.

Research output: Contribution to journalArticle

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