title: Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.
abstract: Linkage analysis in twenty-five families with acute (type I) spinal muscular atrophy (SMA) showed that the mutant gene responsible for the disorder is tightly linked to the D5S39 locus. The mutation(s) causing the intermediate (type II) and juvenile chronic (type III) forms of SMA were also mapped to DNA marker D5S39 on chromosome 5 (5q12-q14). Thus, the three forms, which have been differentiated clinically on the basis of age of onset and clinical course, are most probably due to different mutations at a single locus on chromosome 5. Prenatal diagnosis of SMA type I will now be possible.
authors.affiliation: INSERM Unité 12, Hôpital des Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Melki
authors.forename: P
authors.initials: P
authors.lastname: Sheth
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: P
authors.initials: P
authors.lastname: Burlet
authors.forename: M F
authors.initials: MF
authors.lastname: Bachelot
authors.forename: M G
authors.initials: MG
authors.lastname: Lathrop
authors.forename: J
authors.initials: J
authors.lastname: Frezal
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000208:Acute Disease; D000367:Age Factors; D016009:Chi-Square Distribution; D002675:Child, Preschool; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D015342:DNA Probes; D006801:Humans; D007223:Infant; D008126:Lod Score; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000235:genetics* / Q000401:mortality; D009154:Mutation; D011995:Recombination, Genetic; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics
chemical_list: D015342:DNA Probes