A new phenotype linked to SPG27 and refinement of the critical region on chromosome 10

Journal of Neurology

Volumn 253, Issue 6, 2006, Pages 714-719

  Ribai, P ^a   Stevanin, G ^a   Bouslam, N ^a,b   Pontier, B ^d   Nelson, I ^a   Fontaine, B ^a   Dussert, Ch ^a   Charon, C ^e   Durr, A ^a   Brice, A ^a,c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b IBN SINA HOSPITAL   (Morocco)

^c SORBONNE UNIVERSITÉ   (France)

^d Centre Hospitalier de Vierzon   (France)

^e CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

Autosomal recessive; Hereditary spastic paraplegia; Locus; Phenotypic variability

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 10; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOME ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MENTAL DEFICIENCY; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; SHORT STATURE; SPG27 GENE; TUNISIA;

ADULT; CEREBRAL CORTEX; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; FAMILY HEALTH; FEMALE; HUMANS; LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33745521432     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0094-2     Document Type: Article

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