Associated Papers
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.
Beheshti P et al.
Clinical Genetics, 2026
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S5
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N et al.
Neuropathology and Applied Neurobiology, 2021
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
Mojbafan M et al.
Bmc Medical Genetics, 2020
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N et al.
Molecular Genetics & Genomic Medicine, 2018
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