Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20.

Authors

Sabine Rudnik-Schöneborn¹, Thomas Eggermann¹, Wolfram Kress², Henny H Lemmink³, Jan-Maarten Cobben⁴, Klaus Zerres¹

Affiliations

¹ Institute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.
² Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
³ Department of Genetics, University Center Groningen, Groningen, The Netherlands.
⁴ Department of Pediatrics, Emma Kinderziekenhuis AMC, Amsterdam, The Netherlands.

No abstract available

MeSH terms

Genetic Predisposition to Disease*
Genetic Testing*
Humans
Muscular Atrophy, Spinal / diagnosis
Muscular Atrophy, Spinal / genetics*
Muscular Atrophy, Spinal / pathology
Mutation
Survival of Motor Neuron 1 Protein / genetics
Survival of Motor Neuron 2 Protein / genetics

Substances

SMN1 protein, human
SMN2 protein, human
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein