ArticleMuscle & nerve2019
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Article in Muscle & nerve, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads.Communications biology · 2023Article
- Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.Human genome variation · 2023Article
- Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.JCI insight · 2022Article
- 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
- 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
- Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.The American journal of pathology · 2020Article
- A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.PLoS genetics · 2020Article
- Double the trouble: giant proteins with dual kinase activity in the heart.Biophysical reviews · 2020Review
- The M-band: The underestimated part of the sarcomere.Biochimica et biophysica acta. Molecular cell research · 2020Review
- Novel SPEG variant cause centronuclear myopathy in China.Journal of clinical laboratory analysis · 2020Article
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Authors and funding
12 authors at 9 institutions in 2 countries.
Funding
Abstract
introductionCentronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients with SPEG mutations expanding the phenotype and evaluate genotype-phenotype correlations associated with SPEG mutations.
methodsUsing whole exome/genome sequencing in CM families, we identified novel recessive SPEG mutations in 2 patients.
resultsPatient 1, with severe muscle weakness requiring respiratory support, dilated cardiomyopathy, ophthalmoplegia, and findings of nonspecific CM on muscle biopsy carried a homozygous SPEG mutation (p.Val3062del). Patient 2, with milder muscle weakness, ophthalmoplegia, and CNM carried compound heterozygous mutations (p.Leu728Argfs*82) and (p.Val2997Glyfs*52).
conclusionsThe 2 patients add insight into genotype-phenotype correlations of SPEG-associated CMs. Clinicians should consider evaluating a CM patient for SPEG mutations even in the absence of CNM features. Muscle Nerve 59:357-362, 2019.
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