Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

Journal of the Neurological Sciences

Volumn 161, Issue 1, 1998, Pages 23-28

  Sambuughin, Nyamkhishig ^a   Sivakumar, Kumaraswamy ^a,b   Selenge, Badamjav ^c   Suk Lee, Hee ^a   Friedlich, Daniel ^a   Baasanjav, Damchaa ^c   Dalakas, Marinos C ^a   Goldfarb, Lev G ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b BARROW NEUROLOGICAL INSTITUTE   (United States)

^c Mongolian Natl Institute of Health   (Mongolia)

Author keywords

Charcot Marie Tooth disease type 2; Chromosome 7p; Distal spinal muscular atrophy; Genetic linkage analysis; Genotype phenotype correlation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 7P; FEMALE; GENE MAPPING; GENE SEGREGATION; GENETIC LINKAGE; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PEDIGREE;

EID: 0032569930     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00264-0     Document Type: Article

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