An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Neuromuscul Disord
; 33(10): 817-821, 2023 Oct.
Article
em En
| MEDLINE
| ID: mdl-37743183
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Glicogênio
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Doenças Musculares
Limite:
Adult
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article