Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Mitochondrial complex III deficiency

OMIM:124000
Mode of inheritance:Multiple
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolBCS1L
Reference transcriptNM_004328.4
DNA Changec.547C>T
A.A. Changep.Arg183Cys
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceFernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Hum Mol Genet. 2007 May 15;16(10):1241-52.
Gene SymbolBCS1L
Reference transcriptNM_004328.4
DNA Changec.550C>T
A.A. Changep.Arg184Cys
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceFernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Hum Mol Genet. 2007 May 15;16(10):1241-52.