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Motor neuron mitochondrial dysfunction in spinal muscular atrophy

3 Aug 2016

Abstract excerpt

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, predominantly affects high metabolic tissues including motor neurons, skeletal muscles and the heart. Although the genetic cause of SMA has been identified, mechanisms underlying tissue-specific vulnerability are not well understood. To study these mechanisms, we carried out a deep sequencing analysis of the transcriptome of spinal...

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PMID: 27488123
DOI: 10.1093/hmg/ddw262

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