Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association

B Feingold, WT Mahle, S Auerbach, P Clemens… - Circulation, 2017 - Am Heart Assoc
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of
morbidity and mortality. The management of cardiac disease in NMDs is made challenging …

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

A Brodehl, A Gaertner-Rommel, H Milting - Biophysical reviews, 2018 - Springer
Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

A Schänzer, S Rupp, S Gräf, D Zengeler, C Jux… - Molecular genetics and …, 2018 - Elsevier
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by
degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is …

Myofibrillar myopathies: state of the art, present and future challenges

A Béhin, E Salort-Campana, K Wahbi, P Richard… - Revue …, 2015 - Elsevier
Myofibrillar myopathies (MFM) have been described in the mid-1990s as a group of
diseases sharing common histological features, including an abnormal accumulation of …

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

A Kostera-Pruszczyk, M Suszek, R Płoski… - Journal of muscle …, 2015 - Springer
BAG3 belongs to BAG family of molecular chaperone regulators interacting with HSP70 and
anti-apoptotic protein Bcl-2. It is ubiquitously expressed with strong expression in skeletal …

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

AL Semmler, S Sacconi, JE Bach, C Liebe… - Orphanet journal of rare …, 2014 - Springer
Background Myofibrillar myopathies (MFM) are a group of phenotypically and genetically
heterogeneous neuromuscular disorders, which are characterized by protein aggregations …

Filamin and Phospholipase C-ε Are Required for Calcium Signaling in the Caenorhabditis elegans Spermatheca

I Kovacevic, JM Orozco, EJ Cram - PLoS genetics, 2013 - journals.plos.org
The Caenorhabditis elegans spermatheca is a myoepithelial tube that stores sperm and
undergoes cycles of stretching and constriction as oocytes enter, are fertilized, and exit into …

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish

E Cannone, V Guglielmi, G Marchetto, C Tobia… - International Journal of …, 2023 - mdpi.com
Myofibrillar myopathies (MFMs) are a group of hereditary neuromuscular disorders sharing
common histological features, such as myofibrillar derangement, Z-disk disintegration, and …

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies: Experience From the Italian Network

S Bortolani, M Savarese, G Vattemi, S Bonanno… - Neurology, 2024 - neurology.org
Background and Objectives The diagnostic process for myofibrillar myopathies (MFM) and
distal myopathies (DM) is particularly complex because of the large number of causative …

Mitochondrial abnormalities in the myofibrillar myopathies

S Jackson, J Schaefer, M Meinhardt… - European journal of …, 2015 - Wiley Online Library
Myofibrillar myopathies are a genetically diverse group of skeletal muscle disorders, with
distinctive muscle histopathology. Causative mutations have been identified in the genes …