Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase μ-binding protein 2 ( IGHMBP2 ) gene. Whereas IGHMBP2 is ubiquitously expressed, loss or reduction of function leads to alpha motor neuron loss and skeletal muscle atrophy. We previously developed a gene therapy strategy for SMARD1...

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