Ach |
acetylcholine |
ALS |
amyotrophic lateral sclerosis |
ASOs |
antisense oligonucleotides |
BCS1L |
ubiquinol-cytochrome c reductase complex chaperone |
CMS |
congenital myasthenic syndrome |
CMT |
Charcot–Marie–Tooth disease |
DMPK |
myotonic dystrophy protein kinase |
DOA |
dominant optic atrophy FSHD, facioscapulohumeral muscular dystrophy |
HCMP |
hypertrophic cardiomyopathy |
IBM |
inclusion body myositis |
LS |
Leigh syndrome |
MADD |
multiple acyl-CoA dehydrogenase deficiency |
MD |
muscular dystrophy |
MELAS |
mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
MERRF |
myoclonic epilepsy and ragged-red fibers |
MILS |
maternally inherited Leigh syndrome |
NCLA |
neonatal cardiomyopathy with lactic acidosis |
NMD |
neuromuscular disease NMJ, neuromuscular junction |
PCH |
pontocerebellar hypoplasia |
SCAD |
short-chain acyl-CoA dehydrogenase |
SDH |
succinate dehydrogenase |
SMN |
survivor motor neuron |