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
Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload.
Li H et al.
Science China. Life Sciences, 2025
MICU1 related myopathy - a rare report from India.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Baker EK et al.
Frontiers in Genetics, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.
Bitarafan F et al.
Molecular and Cellular Pediatrics, 2021
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