ArticleNeuromuscular disorders : NMD2006
Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys).
Article in Neuromuscular disorders : NMD, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.Journal of neuromuscular diseases · 2026Pooled it
- Sarcopenia: Aging-Related Loss of Muscle Mass and Function.Physiological reviews · 2019 · on this mapReview
- ADisease models & mechanisms · 2017Article
- Mutations in the SH1 helix alter the thermal properties of myosin II.Biophysics and physicobiology · 2017Article
- Aberrant post-translational modifications compromise human myosin motor function in old age.Aging cell · 2015Article
- Myosinopathies: pathology and mechanisms.Acta neuropathologica · 2013Review
- Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.Molecular biology of the cell · 2012Article
- Myofibrillogenesis in the developing zebrafish heart: A functional study of tnnt2.Developmental biology · 2009Article
- Depletion of zebrafish essential and regulatory myosin light chains reduces cardiac function through distinct mechanisms.Cardiovascular research · 2008Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
The pathogenic events leading to the progressive muscle weakness in patients with a E706K mutation in the head of the myosin heavy chain (MyHC) IIa were analyzed at the muscle cell and motor protein levels. Contractile properties were measured in single muscle fiber segments using the skinned fiber preparation and a single muscle fiber in vitro motility assay. A dramatic impairment in the function of the IIa MyHC isoform was observed at the motor protein level. At the single muscle fiber level, on the other hand, a general decrease was observed in the number of preparations where the specific criteria for acceptance were fulfilled irrespective of MyHC isoform expression. Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression.
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Registered trials
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