Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.

doi:10.1111/cge.70062

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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.

Clinical genetics - 1 Mar 2026

Beheshti Pegah, Akbarian Fahimeh, Esmaeilzadeh Emran, Galehdari Hamid, Khorrami Mehdi, Vallian Sadeq, Abdi Alireza, Güngör Özge, Tuncel Rasim, Aykut Ayca, Ekmekci Özgul, Akın Haluk, Durmaz Asude, Moghaddam Atefeh Sohanforooshan, Chamanrou Niloofar, Karimi Fatemeh, Kazemi Arezu, Habibi Mahvash, Tabatabaiefar Mohammad Amin, Khorshid Hamid Reza Khorram, Parvini Farshid, Yiş Uluç, Polat Ipek, Youssefian Leila, Vahidnezhad Hassan, Heidari Morteza, Sarraf Payam, Karimiani Ehsan Ghayoor, Maroofian Reza, Biglari Sajjad

Abstract excerpt

Myopathy with extrapyramidal signs (MPXPS) is a rare, autosomal-recessive, multisystem disorder caused by biallelic loss-of-function (LOF) variants in MICU1, the calcium-sensing gatekeeper of the mitochondrial calcium uniporter. We clinically and genetically characterized seven affected individuals from six Iranian-Turkish consanguineous families and combined these data with 54 previously published cases (total...

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PMID: 40898676
DOI: 10.1111/cge.70062

Genes

MICU1
MCU

Variants

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