%0 Journal Article %T Estudio cl¨ªnico, gen¨¦tico y molecular en un paciente con atrofia muscular espinal %A Men¨¦ndez Alejo %A Ibis %A Hern¨¢ndez Chico %A Concepci¨®n %A Cepero Noriega %A Fara %J Revista Cubana de Pediatr£¿-a %D 1998 %I Editorial Ciencias M¨¦dicas %X the infantile spinal muscular atrophies (sma) are hereditary neuromuscular diseases characterized by degenerated alfa-motoneurons of the anterior spinal marrow horn. werdning-hoffman disease, type 1 sma, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life. this paper presents a cuban family with two kids who suffer from type-1 sma; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease. also, a deletion of both copies of smn gene (exon 8) and naip gene (exon 5) were discovered in this patient. these findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of werdning-hoffman disease. %K werdnig-hoffman %K exonas [genetics] %K genetics biochemical %K cuba. %U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0034-75311998000100009&lng=en&nrm=iso&tlng=en