Dominant congenital benign spinal muscular atrophy.
The affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from "arthrogryposis multiplex congenita, distal type," and from non hereditary types of congenital arthrogryposis.
Frijns
C J
CJ
Department of Neurology, St. Lucas Hospital, Amsterdam, The Netherlands.
Van Deutekom
J
J
Frants
R R
RR
Jennekens
F G
FG
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000032:analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree
D004247:DNA