An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Early onset myopathies
GLUT4
Glycogen storage
RALGAPA1
WES, aCGH
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
22
06
2023
revised:
08
08
2023
accepted:
23
08
2023
medline:
6
11
2023
pubmed:
25
9
2023
entrez:
24
9
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37743183
pii: S0960-8966(23)00706-X
doi: 10.1016/j.nmd.2023.08.011
pii:
doi:
Substances chimiques
Glycogen
9005-79-2
RALGAPA1 protein, human
0
Nerve Tissue Proteins
0
GTPase-Activating Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
817-821Informations de copyright
Copyright © 2023 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.