Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Neuromuscular Disorders Année : 2007

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Heinz Jungbluth
  • Fonction : Auteur
Haiyan Zhou
  • Fonction : Auteur
Caroline A Sewry
  • Fonction : Auteur
Stephanie Robb
  • Fonction : Auteur
Susan Treves
  • Fonction : Auteur
Marc Bitoun
Carsten Bönnemann
  • Fonction : Auteur
Francesco Muntoni

Résumé

Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the myotubularin (MTM1) gene are implicated in the X-linked variant, mutations in the dynamin 2 (DNM2) gene have been recently associated with dominant inheritance. We report a 16-year-old girl with clinical features of a congenital myopathy and external ophthalmoplegia. Multiple central nuclei affecting up to 50% of fibres and central accumulation of oxidative enzyme stains were the most prominent findings on muscle biopsy obtained at 1 year. However, some core-like areas appeared on repeat biopsy 8 years later; in addition, muscle MRI was compatible with the pattern we previously reported in patients with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Mutational analysis identified a de novo dominant RYR1 missense mutation (c.12335C>T; Ser4112Leu) affecting a highly conserved domain of the protein. Our findings expand the phenotypical spectrum associated with RYR1 mutations and indicate that RYR1 screening should be considered in centronuclear myopathy patients without MTM1 or DNM2 mutations; muscle MRI may aid selection of appropriate genetic testing.

Dates et versions

hal-00189980 , version 1 (22-11-2007)

Identifiants

Citer

Heinz Jungbluth, Haiyan Zhou, Caroline A Sewry, Stephanie Robb, Susan Treves, et al.. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.. Neuromuscular Disorders, 2007, 17 (4), pp.338-45. ⟨10.1016/j.nmd.2007.01.016⟩. ⟨hal-00189980⟩
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