ArticleJournal of clinical laboratory analysis2020
Novel SPEG variant cause centronuclear myopathy in China.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case withInternational journal of molecular sciences · 2022Article
- Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.Disease models & mechanisms · 2022Article
- Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- SPEG: a key regulator of cardiac calcium homeostasis.Cardiovascular research · 2021Review
- Mild congenital myopathy due to a novel variation inIntractable & rare diseases research · 2021Article
- Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.International journal of molecular sciences · 2021Review
- Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.BMC pediatrics · 2021Review
- HomozygousCirculation. Genomic and precision medicine · 2021Article
- Exploring Obscurin and SPEG Kinase Biology.Journal of clinical medicine · 2021Article
- Novel SPEG variant cause centronuclear myopathy in China.Journal of clinical laboratory analysis · 2020Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundCentronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported.
methodsA radiograph test, ultrasonic test, and biochemical tests were applied to clinical diagnosis of CNM. We performed trio medical exome sequencing of the family and conservation analysis to identify variants.
resultsWe report a pair of severe CNM twins with the same novel homozygous SPEG variant c. 8710A>G (p.Thr2904Ala) identified by clinical trio medical exome sequencing of the family and conservation analysis. The twins showed clinical symptoms of facial weakness, hypotonia, arthrogryposis, strephenopodia, patent ductus arteriosus, and pulmonary arterial hypertension.
conclusionsOur report expands the clinical and molecular repertoire of CNM and enriches the variant spectrum of the SPEG gene in the Chinese population and helps us further understand the pathogenesis of CNM.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.