We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical utility gene card for: proximal spinal muscular atrophy.
- Authors
Rudnik-Schöneborn, Sabine; Eggermann, Thomas; Kress, Wolfram; Lemmink, Henny H; Cobben, Jan-Maarten; Zerres, Klaus
- Abstract
The article presents a clinical utility gene card for proximal spinal muscular atrophy (SMA). It offers characteristics of the disease, mutational spectrum, analytical validation, estimated frequency and clinical utility of the disease. According to the European guidelines for genetic testing in minors, predictive testing in SMA should be considered on an individual case basis only.
- Subjects
SPINAL muscular atrophy; GENETIC mutation; CASE studies; GENETIC testing; MUSCULAR atrophy
- Publication
European Journal of Human Genetics, 2012, Vol 20, Issue 6, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2012.62