Multiple mtDNA deletions: clinical and molecular correlations.
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.
Santorelli
F M
FM
Neurological Institute, La Sapienza University, Rome, Italy. fms3@na.flashnet.it
De Joanna
G
G
Casali
C
C
Tessa
A
A
Siciliano
G
G
Amabile
G A
GA
Pierelli
F
F
Vilarinho
L
L
Santoro
L
L
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*
D004272:DNA, Mitochondrial