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.
Multiple mtDNA deletions: Clinical and molecular correlations / F. M., Santorelli; G., De Joanna; Casali, Carlo; A., Tessa; G., Siciliano; Amabile, Giuseppe Amadio; Pierelli, Francesco; L., Vilarinho; L., Santoro. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - STAMPA. - 23:2(2000), pp. 155-161. [10.1023/a:1005617916260]
Multiple mtDNA deletions: Clinical and molecular correlations
CASALI, Carlo;AMABILE, Giuseppe Amadio;PIERELLI, Francesco;
2000
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
