Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
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
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
Wang Q et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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