Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
AUTOR(ES)
Spranger, S
RESUMO
We present the results of clinical and molecular genetic investigations of a family in which the father suffers from distal spinal muscular atrophy and the younger son is affected by infantile autosomal recessive SMA type I. The molecular analysis of the SMN gene showed homozygous deletions of telSMN exons 7 and 8 in the son only. This was probably the result of a new mutation in the paternal haplotype, since the affected boy did not inherit one copy of the marker Ag1-CA. These results indicate that distal and proximal SMA in this family are not caused by the same gene on chromosome 5q.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050925Documentos Relacionados
- The sequence of a human immunoglobulin epsilon heavy chain constant region gene, and evidence for three non-allelic genes.
- Two non-allelic human interferon alpha genes with identical coding regions.
- Proximal spinal muscular atrophy.
- Non familial juvenile distal spinal muscular atrophy of upper extremity.
- A family of juvenile proximal spinal muscular atrophy with dominant inheritance.