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Article Dans Une Revue Journal of Neuromuscular Diseases Année : 2018

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Xavière Lornage
  • Fonction : Auteur
Pascal Sabouraud
  • Fonction : Auteur
Béatrice Lannes
  • Fonction : Auteur
Dominique Gaillard
  • Fonction : Auteur
Raphael Schneider
Jean-François Deleuze
Anne Boland
Johann Bohm
  • Fonction : Auteur
Valérie Biancalana
Jocelyn Laporte
  • Fonction : Auteur

Résumé

Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features.

Domaines

Génétique
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Dates et versions

hal-03664348 , version 1 (10-05-2022)

Identifiants

Citer

Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphael Schneider, et al.. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei. Journal of Neuromuscular Diseases, 2018, 5 (2), pp.257-260. ⟨10.3233/jnd-170265⟩. ⟨hal-03664348⟩
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