Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation

Dna Mutation ◽

B12 Deficiency

A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy

New England Journal of Medicine ◽

10.1056/nejm198905183202002 ◽

1989 ◽

Vol 320 (20) ◽

pp. 1300-1305 ◽

Cited By ~ 106

Author(s):

Gurparkash Singh ◽

Marie T. Lott ◽

Douglas C. Wallace

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Optic neuropathy in vitamin B12 deficiency

European Journal of Internal Medicine ◽

10.1016/j.ejim.2005.01.021 ◽

2005 ◽

Vol 16 (6) ◽

pp. 447-448 ◽

Cited By ~ 17

Author(s):

Sai H. Chavala ◽

Gregory S. Kosmorsky ◽

Mina K. Lee ◽

Michael S. Lee

Keyword(s):

Vitamin B12 ◽

Optic Neuropathy ◽

Vitamin B12 Deficiency ◽

B12 Deficiency

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.13.6206 ◽

1994 ◽

Vol 91 (13) ◽

pp. 6206-6210 ◽

Cited By ~ 192

Author(s):

A. S. Jun ◽

M. D. Brown ◽

D. C. Wallace

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Nadh Dehydrogenase ◽

Nadh Dehydrogenase Subunit ◽

Leber Hereditary Optic Neuropathy ◽

Nucleotide Pair ◽

Dna Mutation ◽

Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.61.5.533 ◽

1996 ◽

Vol 61 (5) ◽

pp. 533-534 ◽

Cited By ~ 9

Author(s):

B Funalot ◽

D Ranoux ◽

J L Mas ◽

C Garcia ◽

J P Bonnefont

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation

Journal of Biological Chemistry ◽

10.1074/jbc.m006476200 ◽

2000 ◽

Vol 275 (51) ◽

pp. 39831-39836 ◽

Cited By ~ 147

Author(s):

Michael D. Brown ◽

Ian A. Trounce ◽

Albert S. Jun ◽

Jon C. Allen ◽

Douglas C. Wallace

Keyword(s):

Functional Analysis ◽

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Bilateral demyelinating optic neuropathy with retinal pigment epithelial mottling and concurrent central serous chorioretinopathy due to the domino effect of severe Vitamin B12 deficiency

TNOA Journal of Ophthalmic Science and Research ◽

10.4103/tjosr.tjosr_33_21 ◽

2021 ◽

Vol 59 (4) ◽

pp. 396

Author(s):

PrasannaVenkatesh Ramesh ◽

ShruthyVaishali Ramesh ◽

Ramesh Rajasekaran ◽

MeenaKumari Ramesh ◽

Anugraha Balamurugan ◽

...

Keyword(s):

Vitamin B12 ◽

Optic Neuropathy ◽

Central Serous Chorioretinopathy ◽

Retinal Pigment Epithelial ◽

Retinal Pigment ◽

Vitamin B12 Deficiency ◽

Domino Effect ◽

Pigment Epithelial ◽

Severe Vitamin ◽

B12 Deficiency

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Journal of Translational Medicine ◽

10.1186/1479-5876-10-43 ◽

2012 ◽

Vol 10 (1) ◽

Cited By ~ 11

Author(s):

A-Mei Zhang ◽

Xiaoyun Jia ◽

Xiangming Guo ◽

Qingjiong Zhang ◽

Yong-Gang Yao

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Chinese Patients ◽

Leber Hereditary Optic Neuropathy ◽

Dna Mutation ◽

Leber’s hereditary optic neuropathy and vitamin B12 deficiency

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/s00417-006-0269-7 ◽

2006 ◽

Vol 244 (10) ◽

pp. 1357-1359 ◽

Cited By ~ 22

Author(s):

Jan Willem R. Pott ◽

Kwok H. Wong

Keyword(s):

Vitamin B12 ◽

Optic Neuropathy ◽

Vitamin B12 Deficiency ◽

B12 Deficiency ◽

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(99)00088-x ◽

1999 ◽

Vol 165 (1) ◽

pp. 10-17 ◽

Cited By ~ 35

Author(s):

H.R Cock ◽

J.M Cooper ◽

A.H.V Schapira

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Functional Consequences ◽

`Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

Brain ◽

10.1093/brain/123.9.1896 ◽

2000 ◽

Vol 123 (9) ◽

pp. 1896-1902 ◽

Cited By ~ 39

Author(s):

R. Lodi

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Oxidative Metabolism ◽

Dna Mutation ◽

Mitochondrial Dna Mutations ◽

Dna Mutations ◽

Mitochondrial Oxidative Metabolism ◽