Resumo

MENENDEZ ALEJO, Ibis; HERNANDEZ CHICO, Concepción  e  CEPERO NORIEGA, Fara. Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal. Rev Cubana Pediatr [online]. 1998, vol.70, n.1, pp. 48-52. ISSN 1561-3119.

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.

Palavras-chave : WERDNIG-HOFFMAN; EXONAS [genetics]; GENETICS BIOCHEMICAL; CUBA.

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