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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
Am J Hum Genet. 1998 Jan;62(1):27-35. doi: 10.1086/301676.
Am J Hum Genet. 1998.
PMID: 9490575
Free PMC article.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R.
Torroni A, et al.
Am J Hum Genet. 1997 May;60(5):1107-21.
Am J Hum Genet. 1997.
PMID: 9150158
Free PMC article.
Item in Clipboard
Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy.
Torroni A, Carelli V, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC, Scozzari R.
Torroni A, et al.
Am J Hum Genet. 1996 Jul;59(1):248-52.
Am J Hum Genet. 1996.
PMID: 8659531
Free PMC article.
No abstract available.
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About the "Asian"-specific 9-bp deletion of mtDNA...
Torroni A, Petrozzi M, Santolamazza P, Sellitto D, Cruciani F, Scozzari R.
Torroni A, et al.
Am J Hum Genet. 1995 Aug;57(2):507-8.
Am J Hum Genet. 1995.
PMID: 7668278
Free PMC article.
No abstract available.
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