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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Autors principals:	Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero, Vittoria Petruzzella
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-12-01
Col·lecció:	BMC Research Notes
Matèries:	Incomplete penetrance Leber’s hereditary optic neuropathy Mitochondrial genome mtDNA copy number
Accés en línia:	http://link.springer.com/article/10.1186/s13104-018-4025-y
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