Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain

Sumner, CJ; Crawford, TO

Sumner, CJ (reprint author), Johns Hopkins Univ, Sch Med, Dept Neurol, 855 North Wolfe St,Rangos 234, Baltimore, MD 21205 USA.; Sumner, CJ (reprint author), Johns Hopkins Univ, Sch Med, Dept Neurosci, 855 North Wolfe St,Rangos 234, Baltimore, MD 21205 USA

JOURNAL OF CLINICAL INVESTIGATION, 2018; 128 (8): 3219

Abstract

The motor neuron disease spinal muscular atrophy (SMA) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 gene (SMN1). ......

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