scholarly journals Muscle architecture is associated with muscle fat replacement in Duchenne and Becker Muscular Dystrophies

2021 ◽  
Author(s):  
Thom T. J. Veeger ◽  
Erik W. Zwet ◽  
Diaa Mohamad ◽  
Karin J. Naarding ◽  
Nienke M. Velde ◽  
...  
Keyword(s):  
Muscle Architecture ◽  
Muscular Dystrophies ◽  
Fat Replacement

A 10-YEAR EXPERIENCE OF MOLECULAR TESTING IN DMD/BMD MUSCULAR DYSTROPHIES IN GREECE

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
K Kekou ◽  
C Sofocleous ◽  
N Bogiatzakis ◽  
H Frissira ◽  
S Youroukos ◽  
...  
Keyword(s):  
Muscular Dystrophies ◽  
Molecular Testing

scholarly journals Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies

2021 ◽  
Vol 22 (10) ◽  
pp. 5276
Author(s):  
Coralie Croissant ◽  
Romain Carmeille ◽  
Charlotte Brévart ◽  
Anthony Bouter
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Genetic Disorders ◽  
Muscle Cells ◽  
Cell Types ◽  
Clinical Severity ◽  
Skeletal Muscle Cells ◽  
Muscular Dystrophies ◽  
Membrane Repair ◽  
Human Skeletal Muscle Cells

Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are characterized by mutation in gene encoding key membrane-repair protein, which leads to severe dysfunctions in sarcolemma repair. Cell membrane disruption is a physiological event induced by mechanical stress, such as muscle contraction and stretching. Like many eukaryotic cells, muscle fibers possess a protein machinery ensuring fast resealing of damaged plasma membrane. Members of the annexins A (ANXA) family belong to this protein machinery. ANXA are small soluble proteins, twelve in number in humans, which share the property of binding to membranes exposing negatively-charged phospholipids in the presence of calcium (Ca2+). Many ANXA have been reported to participate in membrane repair of varied cell types and species, including human skeletal muscle cells in which they may play a collective role in protection and repair of the sarcolemma. Here, we discuss the participation of ANXA in membrane repair of healthy skeletal muscle cells and how dysregulation of ANXA expression may impact the clinical severity of muscular dystrophies.

scholarly journals Role of CMR Imaging in Diagnostics and Evaluation of Cardiac Involvement in Muscle Dystrophies

2021 ◽  
Author(s):  
Edyta Blaszczyk ◽  
Jan Gröschel ◽  
Jeanette Schulz-Menger
Keyword(s):  
Clinical Care ◽  
Fatty Infiltration ◽  
Severe Heart Failure ◽  
Diffuse Fibrosis ◽  
Muscular Dystrophies ◽  
Invasive Technique ◽  
Myocardial Tissue ◽  
Therapeutic Decisions ◽  
Cardiovascular Evaluation ◽  
Unique Capability

Abstract Purpose of Review This review aims to outline the utility of cardiac magnetic resonance (CMR) in patients with different types of muscular dystrophies for the assessment of myocardial involvement, risk stratification and in guiding therapeutic decisions. Recent Findings In patients suffering from muscular dystrophies (MD), even mild initial dysfunction may lead to severe heart failure over a time course of years. CMR plays an increasing role in the diagnosis and clinical care of these patients, mostly due to its unique capability to precisely characterize subclinical and progressive changes in cardiac geometry, function in order to differentiate myocardial injury it allows the identification of inflammation, focal and diffuse fibrosis as well as fatty infiltration. CMR may provide additional information in addition to the physical examination, laboratory tests, ECG, and echocardiography. Summary Further trials are needed to investigate the potential impact of CMR on the therapeutic decision-making as well as the assessment of long-term prognosis in different forms of muscular dystrophies. In addition to the basic cardiovascular evaluation, CMR can provide a robust, non-invasive technique for the evaluation of subclinical myocardial tissue injury like fat infiltration and focal and diffuse fibrosis. Furthermore, CMR has a unique capability to detect the progression of myocardial tissue damage in patients with a preserved systolic function.

THE MUSCULAR DYSTROPHIES.

The Lancet ◽  
1925 ◽  
Vol 206 (5336) ◽  
pp. 1179-1180
Keyword(s):  
Muscular Dystrophies
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