Title: | A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21 |
Journal : | Journal of medical genetics, 41 |
Authors: | Takata RI ; Speck Martins CE ; Passos-Bueno MR ; Abe KT ; Nishimura AL ; Dorvalina Da Silva M ; Monteiro A Jr ; Lima MI ; Kok F ; Zatz M |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p. 224-229 |
Languages: | English |
Keywords : | age of disease onset ; Brazil ; case studies ; children ; chromosome X ; clinical presentation ; distal spinal muscular atrophy ; elderly people ; electrodiagnosis ; family ; family trees ; female ; gene localization ; genetic linkage ; genetic mapping ; genetic markers ; genetic recombinations ; haplotypes ; healthy people ; human anatomy ; male ; microsatellites ; muscle biopsies ; nerve biopsies ; photographies ; young adults |