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Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.
Beheshti P, Akbarian F, Esmaeilzadeh E, Galehdari H, Khorrami M, Vallian S, Abdi A, Güngör Ö, Tuncel R, Aykut A, Ekmekci Ö, Akın H, Durmaz A, Moghaddam AS, Chamanrou N, Karimi F, Kazemi A, Habibi M, Tabatabaiefar MA, Khorshid HRK, Parvini F, Yiş U, Polat I, Youssefian L, Vahidnezhad H, Heidari M, Sarraf P, Karimiani EG, Maroofian R, Biglari S. Beheshti P, et al. Among authors: habibi m. Clin Genet. 2026 Mar;109(3):564-570. doi: 10.1111/cge.70062. Epub 2025 Sep 2. Clin Genet. 2026. PMID: 40898676