Article
Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 May 2016
Shababi Monir, Feng Zhihua, Villalon Eric, Sibigtroth Christine M, Osman Erkan Y, Miller Madeline R, Williams-Simon Patricka A, Lombardi Abby, Sass Thalia H, Atkinson Arleigh K, Garcia Michael L, Ko Chien-Ping, Lorson Christian L
Abstract excerpt
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disease occurring during childhood. The gene responsible for disease development is a ubiquitously expressed protein, IGHMBP2. Mutations in IGHMBP2 result in the loss of α-motor neurons leading to muscle atrophy in the distal limbs accompanied by respiratory complications. Although genetically and clinically distinct,...
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