Samaranch, L

SPG11 compound mutations in spastic paraparesis with thin corpus callosum. [electronic resource] - Neurology Jul 2008 - 332-6 p. digital

Publication Type: Case Reports; Journal Article

1526-632X

10.1212/01.wnl.0000319646.23052.d1 doi


Adult
Agenesis of Corpus Callosum
Child
Chromosome Disorders--genetics
Chromosomes, Human, Pair 15--genetics
Corpus Callosum--diagnostic imaging
DNA Mutational Analysis
Energy Metabolism--genetics
Frontal Lobe--diagnostic imaging
Gene Frequency
Genes, Recessive--genetics
Genetic Markers--genetics
Genetic Predisposition to Disease--genetics
Genetic Testing
Genotype
Humans
Intellectual Disability--complications
Mutation--genetics
Nervous System Malformations--complications
Paraparesis, Spastic--complications
Proteins--genetics
Radionuclide Imaging
Spain
Syndrome
Thalamus--diagnostic imaging