Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

Author:

Capon F.,Levato C.,Merlini L.,Angelini C.,Mostacciuolo M.L.,Politano L.,Novelli G.,Dallapiccola B.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Muscle Disorders of Childhood;Dubowitz,1995

2. Unusual pedigree patterns in seven families with spinal muscular atrophy, further evidence for the allelic model hypothesis;Bouwsma;Clin Genet,1986

3. Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q;Muller;Am J Hum Genet,1992

4. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

5. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy;Roy;Cell,1995

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