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Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy

✍ Scribed by Neil Howell; David A. Mackey

Book ID
117852569
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
223 KB
Volume
63
Category
Article
ISSN
0002-9297

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✍ Makoto Nakamura; Yoshisada Fujiwara; Misao Yamamoto πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 308 KB

The maternal transmission of Leber hereditary optic neuropathy (LHON) can be explained by the mitochondrial DNA mutation. However, the characteristic mode of inheritance, i.e. male predominance and reduced penetrance with late onset in females, suggests the simultaneous involvement of an X-linked ge