Association of the 11778 mitochondrial DNA mutation and demyelinating disease

Autor:	K M, Flanigan, D R, Johns
Rok vydání:	1993
Předmět:	Adult Male Optic Atrophies Hereditary Mutation Humans Female DNA Mitochondrial Demyelinating Diseases
Zdroj:	Neurology. 43(12)
ISSN:	0028-3878
Popis:	Leber's hereditary optic neuropathy is a maternally inherited disorder most commonly associated with a mitochondrial DNA mutation at nucleotide position 11778. We report four patients, including a man and a black woman, with the 11778 mutation, who have optic neuropathy and clinical or paraclinical evidence of demyelinating disease. These data support an association of this mitochondrial DNA mutation with demyelinating disease that has a marked female predominance.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::d180963fc1eedad2b74a8b8b71aa9ac6 https://pubmed.ncbi.nlm.nih.gov/8255489 Zobrazit plný text záznamu