Associated Papers
Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.
Finsterer J et al.
Cureus, 2024
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.
Sharova M et al.
Frontiers in Neurology, 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
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
Mojbafan M et al.
Bmc Medical Genetics, 2020
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