An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

Severa, G; Pennisi, A; Barnerias, C; Fiorillo, C; Scala, M; Taglietti, V; Cojocaru, AI; Jouni, D; Tosca, L; Tachdjian, G; Desguerre, I; Authier, FJ; Carlier, RY; Metay, C; Verebi, C; Malfatti, E

Malfatti, E (通讯作者)，Univ Paris Est, Henri Mondor Hosp, Ctr Reference Pathol Neuromusculaire Nord Est Ile, U955,IMRB,INSERM, Paris, France.

NEUROMUSCULAR DISORDERS, 2023; 33 (10): 817

Abstract

Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is c......

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