Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment, D A
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. [electronic resource] - Clinical genetics Dec 2014 - 558-63 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12307 doi
Acid Ceramidase--genetics
Adolescent
Child
Electromyography
Epilepsies, Myoclonic--genetics
Exome
Female
Humans
Motor Neuron Disease--genetics
Muscular Atrophy, Spinal--genetics
Mutation
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. [electronic resource] - Clinical genetics Dec 2014 - 558-63 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12307 doi
Acid Ceramidase--genetics
Adolescent
Child
Electromyography
Epilepsies, Myoclonic--genetics
Exome
Female
Humans
Motor Neuron Disease--genetics
Muscular Atrophy, Spinal--genetics
Mutation