journal cover

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

Human Mutation

Jan 1, 1997

V JuvonenM L Savontaus

Download from

Publisher
PubMed

Abstract

Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the m...read more

Mentioned in this Paper

Optic Atrophies, Hereditary
Pathogenic Organism
DNA, Mitochondrial
Optic Atrophy, Hereditary, Leber
White Blood Cell Count Procedure
Etiology
Leukocytes
Unspecified Visual Loss
Neoplasms, Germ Cell and Embryonal
LHON gene
Paper Details
References
  • References14
  • Citations7
12
  • References14
  • Citations7
1

Feeds With Similar Papers

Peripheral Nervous System Diseases

Peripheral nervous system diseases cover a wide spectrum of disease affecting the peripheral nerves, with the most common being diabetic neuropathy. Discover the latest research on peripheral nervous system diseases here.

Complications of Diabetes

This feed focuses on the complications of diabetes, including diabetic nephropathy, ketoacidosis, cardiomyopathy, and neuropathy.

© 2020 Meta ULC. All rights reserved

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

Human Mutation

Jan 1, 1997

V JuvonenM L Savontaus

PMID: 9143920

DOI: 10.1002/(sici)1098-1004(1997)9:5<412::aid-humu6>3.0.co;2-5

Abstract

Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the m...read more

Mentioned in this Paper

Optic Atrophies, Hereditary
Pathogenic Organism
DNA, Mitochondrial
Optic Atrophy, Hereditary, Leber
White Blood Cell Count Procedure
Etiology
Leukocytes
Unspecified Visual Loss
Neoplasms, Germ Cell and Embryonal
LHON gene

Feeds With Similar Papers

Peripheral Nervous System Diseases

Peripheral nervous system diseases cover a wide spectrum of disease affecting the peripheral nerves, with the most common being diabetic neuropathy. Discover the latest research on peripheral nervous system diseases here.

Complications of Diabetes

This feed focuses on the complications of diabetes, including diabetic nephropathy, ketoacidosis, cardiomyopathy, and neuropathy.

Related Papers

Paper Details
References
  • References14
  • Citations7
12
  • References14
  • Citations7
1

Download from

Publisher
PubMed
/papers/tissue-distribution-of-the-nd411778-mutation-in/9143920