Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case

The MICU1 gene encodes the mitochondrial calcium uptake 1 protein, an essential regulator of mitochondrial Ca2+ uptake and mitochondrial calcium homeostasis [1]. Bi-allelic loss-of-function (LOF) variants in MICU1 are known to cause a rare, autosomal recessive neuromuscular disease, also termed ‘myopathy with extrapyramidal signs’ (MPXPS) (OMIM #615673) [2]. The clinical phenotype usually includes childhood-onset proximal weakness with increased serum CK and liver enzymes, developmental delay and intellectual disability.