Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
AUTOR(ES)
Melki, J
RESUMO
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA probes has shown that the mutation causing Werdnig-Hoffmann disease is located on chromosome 5q12-q14. We performed genetic analysis for the prenatal diagnosis of Werdnig-Hoffmann disease in seven at risk families. Two fetuses were diagnosed as being affected and the remainder as unaffected, and this was confirmed after birth. This study shows that prenatal diagnosis of Werdnig-Hoffmann disease has become feasible.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015891Documentos Relacionados
- A hungarian study on Werdnig-Hoffmann disease.
- Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.
- Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
- The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England
- Options for prenatal testing for Huntington's disease using linked DNA probes.