Multiple mtDNA deletions: Clinical and molecular correlations
Santorelli, F. M. ; De Joanna, G. ; Casali, C. ; Tessa, A. ; Siciliano, G. ; Amabile, G. A. ; Pierelli, F. ; Vilarinho, L. ; Santoro, L.
Springer
Published 2000
Springer
Published 2000
| ISSN: |
1573-2665
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
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.
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| Type of Medium: |
Electronic Resource
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| URL: |