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

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 infan...

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Published in:Neuromuscular disorders : NMD 2023, Vol.33 (10), p.817-821
Main Authors: 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
Format: Report
Language:English
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Summary: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 muscle MRI showed thin muscles, and brain MRI was unremarkable. A deltoid muscle biopsy showed glycogen storage. WGS revealed a de novo 1.4 Mb-deletion of chromosome 14, confirmed by Array-CGH. This microdeletion causes the loss of ten genes including RALGAPA1, encoding for RalA, a regulator of glucose transporter 4 (GLUT4) expression at the membrane of myofibers. GLUT4 was overexpressed in patient's muscle. Here we highlight the importance to search for chromosomal alterations in the diagnostic workup of early onset myopathies.
ISSN:1873-2364
DOI:10.1016/j.nmd.2023.08.011