|Title||Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.|
|Publication Type||Journal Article|
|Year of Publication||2000|
|Authors||Uziel, G, Carrara, F, Granata, T, Lamantea, E, Mora, M, Zeviani, M|
|Date Published||2000 Aug|
|Keywords||Biopsy, Needle, Celiac Disease, Child, Diagnosis, Differential, DNA Mutational Analysis, DNA, Mitochondrial, Electron Transport, Female, Humans, MELAS Syndrome, Mitochondrial Myopathies, Muscle Fibers, Fast-Twitch, Muscle, Skeletal, Neuromuscular Diseases, Pedigree, Point Mutation, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Polymorphism, Single-Stranded Conformational, Tomography, X-Ray Computed|
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.
|Alternate Journal||Neuromuscul. Disord.|