Article
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Human mutation - 1 Aug 2007
Guenther Ulf-Peter, Varon Raymonda, Schlicke Maria, Dutrannoy Véronique, Volk Alexander, Hübner Christoph, von Au Katja, Schuelke Markus
Abstract excerpt
Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we present a retrospective clinical and genetic study to determine the criteria that would predict the presence or absence...
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