Article
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Neuromuscular disorders : NMD - 1 Oct 2023
Severa Gianmarco, Pennisi Alessandra, Barnerias Christine, Fiorillo Chiara, Scala Marcello, Taglietti Valentina, Cojocaru Andreea Iuliana, Jouni Dima, Tosca Lucie, Tachdjian Gérard, Desguerre Isabelle, Authier François-Jérome, Carlier Robert-Yves, Metay Corinne, Verebi Camille, Malfatti Edoardo
Abstract excerpt
Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood. Serum Creatine kinase level was normal. Whole-body...
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