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Functional Characterization of Endogenously Expressed Human RYR1 Variants
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RYR1 causing distal myopathy.

Ruple S Laughlin1, Zhiyv Niu2,3, Eric Wieben4

  • 1Department of Neurology, Mayo Clinic, Rochester, Minnesota.

Molecular Genetics & Genomic Medicine
|November 28, 2017
PubMed
Summary
This summary is machine-generated.

Ryanodine receptor (RYR1) gene mutations cause congenital myopathies. This study details a novel phenotype of adult-onset hand weakness linked to RYR1 variants, expanding diagnostic considerations for distal myopathies.

Keywords:
RYR1Centronucleardistal myopathymyopathy

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Area of Science:

  • Genetics
  • Neuromuscular Disorders

Background:

  • Congenital myopathies are increasingly linked to mutations in the ryanodine receptor (RYR1) gene.
  • RYR1 mutations commonly present as malignant hyperthermia susceptibility or central core disease, with rare reports of distal weakness.

Observation:

  • A patient presented with childhood-onset hand stiffness and adult-onset progressive hand weakness and jaw contractures.
  • Clinical manifestations included distal and proximal limb weakness, facial involvement, and limited jaw opening.

Findings:

  • Electromyography confirmed a myopathic process, and muscle biopsy revealed centronuclear myopathy features.
  • Whole exome sequencing identified a novel heterozygous pathogenic RYR1 variant (c.12315_12328delAGAAATCCAGTTCC, p.Glu4106Alafs*8) and a missense variant (c.10648C>T, p.Arg3550Trp).

Implications:

  • This case expands the known phenotypic spectrum of RYR1-related myopathies.
  • RYR1 gene analysis should be considered in the diagnostic workup of adult-onset distal myopathies.