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
MICU1 related myopathy - a rare report from India.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.
Finsterer J et al.
Cureus, 2024
Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case.
Fevga C et al.
Parkinsonism & Related Disorders, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Logan CV et al.
Nature Genetics, 2014
Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India.
Mukherjee D et al.
Annals of Indian Academy of Neurology, 0
Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants.
Finsterer J
Annals of Indian Academy of Neurology, 0
MICU1- Related Myopathy with Extrapyramidal Signs.
Mukherjee D et al.
Annals of Indian Academy of Neurology, 0
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