Myopathy with extrapyramidal signs
Definition:
References:
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[1]. Clare V Logan, et al. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93. [Content Brief]
[2]. Sara Musa, et al. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. JIMD Rep. 2019;43:79-83. [Content Brief]
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