title: Multiple mtDNA deletions: clinical and molecular correlations.
abstract: We studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged-red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.
authors.affiliation: Neurological Institute, La Sapienza University, Rome, Italy. fms3@na.flashnet.it
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: G
authors.initials: G
authors.lastname: De Joanna
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: G A
authors.initials: GA
authors.lastname: Amabile
authors.forename: F
authors.initials: F
authors.lastname: Pierelli
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: L
authors.initials: L
authors.lastname: Santoro
mesh_terms: D000328:Adult; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology; D005951:Glucose Tolerance Test; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial