Imperial College London


Faculty of MedicineNational Heart & Lung Institute

(Non-Clinical) Professor in Cardiovascular Biochemistry



+44 (0)20 7594 2732s.marston Website




433ICTEM buildingHammersmith Campus






BibTex format

author = {Marston, SB},
doi = {10.3390/ijms19072020},
journal = {International Journal of Molecular Sciences},
title = {The molecular mechanisms of mutations in actin and myosin that cause inherited myopathy},
url = {},
volume = {19},
year = {2018}

RIS format (EndNote, RefMan)

AB - The discovery that mutations in myosin and actin genes, together with mutations in theother components of the muscle sarcomere, are responsible for a range of inherited muscle diseases(myopathies) has revolutionized the study of muscle, converting it from a subject of basic science to arelevant subject for clinical study and has been responsible for a great increase of interest in musclestudies. Myopathies are linked to mutations in five of the myosin heavy chain genes, three of themyosin light chain genes, and three of the actin genes. This review aims to determine to what extentwe can explain disease phenotype from the mutant genotype. To optimise our chances of finding theright mechanism we must study a myopathy where there are a large number of different mutationsthat cause a common phenotype and so are likely to have a common mechanism: a corollary tothis criterion is that if any mutation causes the disease phenotype but does not correspond to theproposed mechanism, then the whole mechanism is suspect. Using these criteria, we consider twocases where plausible genotype-phenotype mechanisms have been proposed: the actin “A-triad” andthe myosin “mesa/IHD” models.
AU - Marston,SB
DO - 10.3390/ijms19072020
PY - 2018///
SN - 1661-6596
TI - The molecular mechanisms of mutations in actin and myosin that cause inherited myopathy
T2 - International Journal of Molecular Sciences
UR -
UR -
VL - 19
ER -