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Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

Diana Xerxes Bharucha-Goebel1, Mariarita Santi, Livija Medne

  • 1Division of Neurology, Children's Hospital of Philadelphia, PA, USA.

Neurology
|April 5, 2013
PubMed

Insights

Severe neonatal-onset ryanodine receptor 1 (RYR1) myopathy presents with diverse clinical and genetic features. This study highlights significant heterogeneity, particularly in recessive RYR1 mutations, expanding understanding of this rare condition.

Area of Science:

  • Neuromuscular Disorders
  • Genetics
  • Pediatric Neurology

Background:

  • Ryanodine receptor 1 (RYR1) gene mutations are associated with various myopathies.
  • Severe congenital forms of RYR1 myopathy present significant diagnostic challenges.

Observation:

  • Eleven patients with severe neonatal-onset RYR1 myopathy were analyzed.
  • Clinical presentations included hypotonia, respiratory issues, arthrogryposis, and ophthalmoplegia.
  • Unique findings like cleft palate and congenital rigid spine were noted in some patients.

Findings:

  • Both dominant and recessive RYR1 mutations can cause severe neonatal phenotypes.
  • Recessive RYR1 mutations exhibited greater clinical and histological heterogeneity.
  • Muscle ultrasound showed relative sparing of the rectus femoris muscle.
  • Classic central cores were present in dominant RYR1 mutations, but not obligatory in recessive forms.

Implications:

  • This series expands the known clinical and histological variability of severe congenital RYR1 myopathy.
  • Early identification of RYR1 myopathy can be aided by imaging findings like rectus femoris sparing.
  • Understanding genetic and phenotypic heterogeneity is crucial for accurate diagnosis and management.
Abstract

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