Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.
AUTOR(ES)
Aymé, S
RESUMO
We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1012617Documentos Relacionados
- Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.
- Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
- Myoglobin in Primary Muscular Disease: I. Duchenne Muscular Dystrophy: and: II. Muscular Dystrophy of Distal Type
- Molecular deletion analysis in Duchenne muscular dystrophy.
- Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.