Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum

Journal of Neurology

Volumn 256, Issue 10, 2009, Pages 1714-1718

  Kim, Sung Min ^a   Lee, Jeong Seon ^a   Kim, Suhyun ^a   Kim, Hyun Jung ^a   Kim, Man Ho ^a   Lee, Kyoung Min ^a   Hong, Yoon Ho ^b   Park, Kyung Seok ^a   Sung, Jung Joon ^c   Lee, Kwang Woo ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Boramae Hospital   (South Korea)

^c BURNHAM INSTITUTE   (United States)

Author keywords

Autosomal recessive; Hereditary spastic paraplegia; SPG11; Thin corpus callosum

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BRAIN DISEASE; BRAIN FUNCTION; CASE REPORT; CLINICAL EVALUATION; CLINICAL FEATURE; CORPUS CALLOSUM; CORPUS CALLOSUM ATROPHY; EXON; FEMALE; FRONTAL LOBE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MENTAL DEVELOPMENT; MISSENSE MUTATION; MOTOR DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPG11 GENE;

ADULT; BASE SEQUENCE; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PEDIGREE; PROTEINS; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 70349652463     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5189-0     Document Type: Article

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