ArticleMolecular and cellular pediatrics2021
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.
Article in Molecular and cellular pediatrics, 2021. 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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11 citing papers in PubMed, 20 citations in OpenAlex.
- Tmbim5 and Slc8b1 cooperate in tissue-specific mitochondrial calcium regulation in zebrafish.Communications biology · 2026Article
- The mitochondrial theory of sleep: an integrative framework for understanding sleep-wake regulation.Frontiers in psychiatry · 2026Review
- The roles of mitochondria in global and local intracellular calcium signalling.Nature reviews. Molecular cell biology · 2025Review
- MICU1 related myopathy - a rare report from India.Journal of neuromuscular diseases · 2024Article
- Calcium signaling in mitochondrial intermembrane space.Biochemical Society transactions · 2024Review
- MICU1's calcium sensing beyond mitochondrial calcium uptake.Biochimica et biophysica acta. Molecular cell research · 2024Review
- Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.Cureus · 2024Article
- Neuronal loss of NCLX-dependent mitochondrial calcium efflux mediates age-associated cognitive decline.iScience · 2023Article
- Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.Science advances · 2022Article
- Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon ofFrontiers in neurology · 2022Article
- Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India.Annals of Indian Academy of NeurologyArticle
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCa CASE PRESENTATION: Here, we report a 44-year-old Iranian patient presented with learning disability, muscle weakness, easy fatigability, reduced tendon reflexes, ataxia, gait disturbance, elevated hepatic transaminases, elevated serum creatine kinase (CK), and elevated lactate dehydrogenase (LDH). We identified a novel nonsense variant c.385C>T; p.(R129*) in MICU1 gene by whole exome sequencing (WES) and segregation analysis.
conclusionsOur finding along with previous studies provides more evidence on the clinical presentation of the disease caused by pathogenic mutations in MICU1. Finding more variants and expanding the spectrum of the disease increases the diagnostic rate of molecular testing in screening of this kind of diseases and in turn improves the quality of counseling for at risk couples and helps them to minimize the risks of having affected children.
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