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

Spastic paraplegia 7, autosomal recessive

OMIM:607259
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolSPG7
Reference transcriptNM_003119.2
DNA Changec.1742_1744delTGG
A.A. Changep.Val581del
Exon/Intronexon 13
Mutation Typedeletion
ReferenceElleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology. 2006 Mar 14;66(5):654-9.
Gene SymbolSPG7
Reference transcriptNM_003119.2
DNA Changec.850_851delTTinsC
A.A. ChangeFrameshift and premature protein truncation
Exon/Intronexon 6
Mutation Typeinsertion
ReferenceElleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology. 2006 Mar 14;66(5):654-9.