title: Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.
abstract: A mutation was found in an Italian child affecting the gene encoding the mitochondrial transfer RNA for leucine (codon UUR). This mutation (3291T-->C) had previously been reported in a single Japanese patient. In contrast with the original patient, who suffered from early-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), our patient presented an apparently isolated mild myopathy. Mutational analysis in the proband and her family showed that the mutation was heteroplasmic, and that its relative amount was positively correlated with the severity of the phenotype. These findings lead to the definitive confirmation that the 3291T-->C is indeed pathogenic. As commonly found in mitochondrial-DNA related disorders, also for this mutation different clinical manifestations can be associated with the same genetic abnormality.
authors.affiliation: Division of Child Neurology, 'C. Besta' National Neurological Institute, 20133, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: F
authors.initials: F
authors.lastname: Carrara
authors.forename: T
authors.initials: T
authors.lastname: Granata
authors.forename: E
authors.initials: E
authors.lastname: Lamantea
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D001707:Biopsy, Needle; D002446:Celiac Disease / Q000150:complications / Q000175:diagnosis; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D004579:Electron Transport; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial