Article
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2000
Lorda-Sanchez I, Garcia-Ruiz P J, Rodriguez de Alba M, Montoya J, Playan A, Sarasa J L, Trujillo M J, Sanz R, Ramos C, Ayuso C
Abstract excerpt
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome...
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