A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia

Chinese Medical Journal

Volumn 127, Issue 10, 2014, Pages 1987-1989

  Wang, Xian Ling ^a   Yang, Yan Hui ^b   Wang, Xiang Bo ^a   Li, Cun Jiang ^a   Jia, Jian Ping ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

KIAA0196; Spastic paraplegia

Indexed keywords

ADULT; ALLELE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; ELECTROMYOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KIAA0196 GENE; LIMB WEAKNESS; MIDDLE AGED; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOLOGIC TEST; RIGIDITY; SPASTIC GAIT; SPASTIC PARAPLEGIA; YOUNG ADULT; ADOLESCENT; GENETICS; MUTATION; PARAPLEGIA;

KIAA0196 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; FEMALE; HUMANS; MUTATION; PARAPLEGIA; POLYMERASE CHAIN REACTION; PROTEINS; YOUNG ADULT;

EID: 84900829100     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.20140078     Document Type: Note

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