Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

Abstract Objectives Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or dev...

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Bibliographic Details
Main Authors: Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero, Vittoria Petruzzella
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Research Notes
Subjects:
Incomplete penetrance
Leber’s hereditary optic neuropathy
Mitochondrial genome
mtDNA copy number
Online Access:http://link.springer.com/article/10.1186/s13104-018-4025-y

Internet

http://link.springer.com/article/10.1186/s13104-018-4025-y

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