Article
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies.
Indian journal of pediatrics - 1 Mar 2025
Gupta Neerja, Aggarwal Bhawana, Mishra Anushree, Chowdhury Madhumita Roy, Gulati Sheffali, Kumar Atin, Kabra Madhulika
Abstract excerpt
Mitochondrial disorders are a diverse group of diseases caused by mutations in genes encoded by either nuclear or mitochondrial DNA. In a group of patients with nuclear mitochondriopathies, the authors analysed the clinico-radiological and genotypic spectrum. The study included 25 patients with a genetic diagnosis of nuclear mitochondrial cytopathy who were seen over a 5 y period. There were 25 patients in the...
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