Leigh syndrome associated with TRMU gene mutations
نویسندگان
چکیده
منابع مشابه
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the...
متن کاملLight and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
AIMS Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscl...
متن کاملMR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
BACKGROUND AND PURPOSE In a large number of patients with Leigh syndrome (LS) and cytochrome c oxidase (COX) deficiency, mutations of the SURF-1 gene were recently identified. The aim of the present study was to review the MR findings in patients with LS to verify if the genetically homogeneous patients with LS and SURF-1 mutations (LS SURF-1 patients) had a homogeneous MR pattern that could be...
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abstract objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...
متن کاملSUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
One pedigree with four patients has been recently described with mitochondrial DNA depletion and mutation in SUCLA2 gene leading to succinyl-CoA synthase deficiency. Patients had a Leigh-like encephalomyopathy and deafness but besides the presence of lactic acidosis, the profile of urine organic acid was not reported. We have studied 14 patients with mild 'unlabelled' methylmalonic aciduria (MM...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2021
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2020.100690