Associated Papers
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
Fujimoto HM et al.
Human Genome Variation, 2023
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.
Jaouadi H et al.
International Journal of Molecular Sciences, 2022
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Espinosa KG et al.
Disease Models & Mechanisms, 2022
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB et al.
American Journal of Human Genetics, 2014
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