Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy
H Rindt, DM Buckley, SM Vale, M Krogman… - Neuromuscular …, 2012 - Elsevier
Spinal Muscular Atrophy (SMA) is a devastating neurodegenerative disease and is a
leading genetic cause of infantile death. SMA is caused by the homozygous loss of Survival
Motor Neuron-1 (SMN1). The presence of a nearly identical copy gene called SMN2 has led
to the development of several strategies that are designed to elevate SMN levels, and it is
clear that SMN2 is an important modifier gene. However, the possibility exists that SMN-
independent strategies to lessen the severity of the SMA phenotype could provide insight …
leading genetic cause of infantile death. SMA is caused by the homozygous loss of Survival
Motor Neuron-1 (SMN1). The presence of a nearly identical copy gene called SMN2 has led
to the development of several strategies that are designed to elevate SMN levels, and it is
clear that SMN2 is an important modifier gene. However, the possibility exists that SMN-
independent strategies to lessen the severity of the SMA phenotype could provide insight …