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Author

Shailaja Mane

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Jul 2026

Novel Homozygous Mitochondrial Calcium Uptake Protein 1 Variant (c.38T>C, p.Leu13Pro) in a 7-year-old Girl with Congenital Ptosis and Proximal Myopathy: Expanding the Phenotypic Spectrum.

ABSTRACT Myopathy with extrapyramidal signs (OMIM #615673) is a rare autosomal recessive mitochondrial disorder caused by biallelic loss-of-function variants in Mitochondrial calcium uptake protein 1 (MICU1), which encodes the gatekeeper of the mitochondrial calcium uniporter complex. We report a 7-year-old Indian girl...

P. Lakshmi, Shiji Chalipat, Manasseh Kunchepu et al. · 0 citations

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