A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann, Kerstin
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. [electronic resource] - Neurology Dec 2014 - 2183-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1526-632X
10.1212/WNL.0000000000001055 doi
Adult
Amino Acyl-tRNA Synthetases--genetics
DNA, Mitochondrial--genetics
Epilepsies, Myoclonic--etiology
Female
Homozygote
Humans
MERRF Syndrome--complications
Male
Mitochondria--genetics
Mutation--genetics
Pedigree
RNA Splicing--genetics
Young Adult
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. [electronic resource] - Neurology Dec 2014 - 2183-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1526-632X
10.1212/WNL.0000000000001055 doi
Adult
Amino Acyl-tRNA Synthetases--genetics
DNA, Mitochondrial--genetics
Epilepsies, Myoclonic--etiology
Female
Homozygote
Humans
MERRF Syndrome--complications
Male
Mitochondria--genetics
Mutation--genetics
Pedigree
RNA Splicing--genetics
Young Adult