Therapeutic strategies for spinal muscular atrophy: SMN and beyond

• প্রধান লেখক: Melissa Bowerman (লেখক), Catherina G. Becker (লেখক), Rafael J. Yáñez-Muñoz (লেখক), Ke Ning (লেখক), Matthew J. A. Wood (লেখক), Thomas H. Gillingwater (লেখক), Kevin Talbot (লেখক), The UK SMA Research Consortium (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2017-08-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1. A second...