Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Movement Disorders

Volumn 21, Issue 2, 2006, Pages 279-281

  Munhoz, Renato P ^a   Kawarai, Toshitaka ^b   Teive, Helio A ^a   Raskin, Salmo ^c   Sato, Christine ^b   Liang, Yan ^b   St George Hyslop, Peter H ^b,d,e   Rogaeva, Ekaterina ^b,e  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b UNIVERSITY OF TORONTO   (Canada)

^c Genetika Laboratory   (Brazil)

^d TORONTO WESTERN HOSPITAL   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Hereditary spastic paraplegia; Missense mutation; SPG6

Indexed keywords

ARGININE; GENE PRODUCT; GENOMIC DNA; GLYCINE; PROTEIN SPG6; UNCLASSIFIED DRUG;

ADULT; AGE DISTRIBUTION; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAZIL; DISEASE COURSE; EVOKED MUSCLE RESPONSE; FAMILY STUDY; GAIT DISORDER; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB WEAKNESS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; BRAZIL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; FEMALE; FOLLOW-UP STUDIES; GAIT DISORDERS, NEUROLOGIC; GENES, DOMINANT; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33644955275     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20775     Document Type: Article

References (7)

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