Lee, M-J

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry May 2008 - 607-9 p. digital

Publication Type: Letter

1468-330X

10.1136/jnnp.2007.136390 doi


Adolescent
Adult
Age of Onset
Atrophy
Cerebral Cortex--pathology
Chromosome Deletion
Chromosomes, Human, Pair 15--genetics
Consanguinity
Corpus Callosum--pathology
DNA Mutational Analysis
Female
Genes, Recessive--genetics
Haplotypes--genetics
Humans
Magnetic Resonance Imaging
Male
Microsatellite Repeats--genetics
Pedigree
Phenotype
Proteins--genetics
Spastic Paraplegia, Hereditary--genetics