title: Clinical utility gene card for: proximal spinal muscular atrophy.
authors.affiliation: Institute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany. srudnik-schoeneborn@ukaachen.de
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Henny H
authors.initials: HH
authors.lastname: Lemmink
authors.forename: Jan-Maarten
authors.initials: JM
authors.lastname: Cobben
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein