Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

Journal of Neurology

Volumn 255, Issue 8, 2008, Pages 1142-1144

  Tzoulis, C ^a   Denora, P S ^c   Santorelli, F M ^c   Bindoff, L A ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

HSP; Paraplegia; Paraplegin; Spastic; SPG7

Indexed keywords

ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DYSPHAGIA; ELECTROMYOGRAPHY; ETHNIC AND RACIAL GROUPS; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MITOCHONDRIAL MEMBRANE; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NORWAY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAPLEGIN GENE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SIBLING;

ADULT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 60049085516     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0858-y     Document Type: Article

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