title: Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency.
abstract: Mitochondrial disorders resulting from an isolated deficiency of complex II of the respiratory chain is rarely reported. The phenotypic spectrum associated with these disorders is heterogeneous and still expanding. This report describes a patient who presented with myopathy, dilated cardiomyopathy, and pontine signal changes on magnetic resonance imaging. Muscle biopsy showed total absence of succinate dehydrogenase on enzyme histochemistry, negative succinate dehydrogenase subunit A (SDHA) activity on immunohistochemistry, and ultrastructural evidence of mitochondrial aggregates of varying sizes confirming the diagnosis of complex II deficiency. A unique phenotype with complex II deficiency is reported.
authors.affiliation: Departments of *Neurology, and †Neuroimaging & Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; ‡Department of Evolutionary and Medical Genetics, Centre for Cellular and Molecular Biology, Hyderabad, India; and §Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Kothari
authors.initials: K
authors.lastname: Sonam
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.forename: Atchayaram
authors.initials: A
authors.lastname: Nalini
authors.forename: Chikkanna
authors.initials: C
authors.lastname: Govindaraju
authors.forename: Hanumanthapura R
authors.initials: HR
authors.lastname: Aravinda
authors.forename: Nahid Akthar
authors.initials: NA
authors.lastname: Khan
authors.forename: Kumaraswamy
authors.initials: K
authors.lastname: Thangaraj
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
mesh_terms: D001928:Brain Diseases, Metabolic / Q000209:etiology* / Q000473:pathology; D009202:Cardiomyopathies / Q000209:etiology*; D042963:Electron Transport Complex II / Q000172:deficiency*; D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D011149:Pons / Q000473:pathology*; D055815:Young Adult
chemical_list: D042963:Electron Transport Complex II