Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
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
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti J et al.
Neuromuscular Disorders : Nmd, 2021
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
Zhang G et al.
Bmc Pediatrics, 2021
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.
Almannai M et al.
Circulation. Genomic and Precision Medicine, 2021
Novel SPEG variant cause centronuclear myopathy in China.
Tang J et al.
Journal of Clinical Laboratory Analysis, 2020
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Qualls AE et al.
Muscle & Nerve, 2019
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Lornage X et al.
Journal of Neuromuscular Diseases, 2018
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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