Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Fiche publication
Date publication
mars 2018
Journal
Journal of neuromuscular diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GAILLARD Dominique, Dr THOMPSON Julie
Tous les auteurs :
Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Böhm J, Biancalana V, Laporte J
Lien Pubmed
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.
Mots clés
Centronuclear myopathy, MTM1, SPEG, congenital myopathy, myotubular myopathy, myotubularin
Référence
J Neuromuscul Dis. 2018 Mar 26;: