Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

Journal of the Neurological Sciences

Volumn 266, Issue 1-2, 2008, Pages 109-114

  Liu, Shi Guo ^a,b   Zhao, Jian Jun ^a,b   Zhuang, Mao You ^c   Li, Fei Feng ^a,b   Zhang, Qing Jun ^d   Huang, Shang Zhi ^e   Che, Feng Yuan ^f   Lu, De Guo ^f   Liu, Shi En ^g   Teng, Ji Jun ^g   Ma, Xu ^a,b,h  

^a GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c PEOPLE S HOSPITAL OF RIZHAO   (China)

^d PEKING UNIVERSITY   (China)

^e INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^f LINYI PEOPLE'S HOSPITAL   (China)

^g QINGDAO UNIVERSITY   (China)

^h WHO Collaborative Center for Research in Human Reproduction   (China)

Author keywords

Genotype phenotype; MEP; MRI; NIPAI; SPG6

Indexed keywords

PROTEIN; SPG6 PROTEIN; UNCLASSIFIED DRUG;

ABDUCTOR POLLICIS BREVIS MUSCLE; ACTION POTENTIAL; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; ELECTROPHYSIOLOGY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MALE; METATARSAL INTERROSSEUS MUSCLE; MUSCLE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SENSORY NERVE; SPINAL CORD; SPINAL CORD ATROPHY; TIBIALIS ANTERIOR MUSCLE;

ACTION POTENTIALS; ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHINA; DNA; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EVOKED POTENTIALS, MOTOR; FEMALE; GENOTYPE; HUMANS; LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; SPINAL CORD;

EID: 38849108744     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.09.024     Document Type: Article

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