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Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

✍ Scribed by Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria Negri; Corrado Balacco Gabrieli; Italo Antonozzi; Alfredo Pontecorvi

Publisher: Springer
Year: 1991
Tongue: English
Weight: 305 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201733

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✦ Synopsis

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

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