[HTML][HTML] Overview of the muscle cytoskeleton

CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Myofibrillar myopathies

D Selcen, AG Engel - Handbook of clinical neurology, 2011 - Elsevier
Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar
morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are …

[HTML][HTML] The molecular basis for sarcomere organization in vertebrate skeletal muscle

Z Wang, M Grange, T Wagner, AL Kho, M Gautel… - Cell, 2021 - cell.com
Sarcomeres are force-generating and load-bearing devices of muscles. A precise molecular
picture of how sarcomeres are built underpins understanding their role in health and …

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

D Selcen, F Muntoni, BK Burton, E Pegoraro… - Annals of …, 2009 - Wiley Online Library
Abstract Objective Myofibrillar myopathies (MFMs) are morphologically distinct but
genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then …

Hereditary muscular dystrophies and the heart

MCE Hermans, YM Pinto, ISJ Merkies… - Neuromuscular …, 2010 - Elsevier
Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly
of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial …

Distinct muscle imaging patterns in myofibrillar myopathies

D Fischer, RA Kley, K Strach, C Meyer, T Sommer… - Neurology, 2008 - AAN Enterprises
Objective: To compare muscle imaging findings in different subtypes of myofibrillar
myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may …

A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland

S Lefter, O Hardiman, AM Ryan - Neurology, 2017 - AAN Enterprises
Objective: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular
diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a …

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review

E Arbustini, A Di Toro, L Giuliani, V Favalli… - Journal of the American …, 2018 - jacc.org
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations
encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm …

The costamere bridges sarcomeres to the sarcolemma in striated muscle

AK Peter, H Cheng, RS Ross, KU Knowlton… - Progress in pediatric …, 2011 - Elsevier
Costameres are sub-membranous, Z-line associated structures found in striated muscle.
They have been shown to have important roles in transmission of force from the sarcomere …

The role of Z-disc proteins in myopathy and cardiomyopathy

K Wadmore, AJ Azad, K Gehmlich - International Journal of Molecular …, 2021 - mdpi.com
The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …