Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy
M Ripolone, D Ronchi, R Violano, D Vallejo… - JAMA …, 2015 - jamanetwork.com
Importance The important depletion of mitochondrial DNA (mtDNA) and the general
depression of mitochondrial respiratory chain complex levels (including complex II) have
been confirmed, implying an increasing paucity of mitochondria in the muscle from patients
with types I, II, and III spinal muscular atrophy (SMA-I,-II, and-III, respectively). Objective To
investigate mitochondrial dysfunction in a large series of muscle biopsy samples from
patients with SMA. Design, Setting, and Participants We studied quadriceps muscle samples …
depression of mitochondrial respiratory chain complex levels (including complex II) have
been confirmed, implying an increasing paucity of mitochondria in the muscle from patients
with types I, II, and III spinal muscular atrophy (SMA-I,-II, and-III, respectively). Objective To
investigate mitochondrial dysfunction in a large series of muscle biopsy samples from
patients with SMA. Design, Setting, and Participants We studied quadriceps muscle samples …