Myofibrilar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk). Some affected individuals also experience muscle stiffness, aching, or cramps.

Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin‐positive protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and pathomorphological variability, establishing the diagnosis of MFM can be a challenging task.

2021年6月29日 · Myofibrillar myopathies are a group of rare genetic neuromuscular disorders that may be diagnosed in childhood but most often appear after 40 years of age. These conditions are highly variable but are characterized by a slowly progressive muscle weakness that can involve skeletal muscle (muscles that function to move bones) and smooth muscle ...

Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is …

Myofibrillar myopathies (MFM) are a group of rare genetic neuromuscular disorders that affect muscle function and cause weakness. They primarily affect skeletal muscles; the limb muscles close to the center of the body (proximal) as well as the …

Myofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype. They are characterized by a distinct pathologic pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of ...

Myofibrillar myopathy is a rare muscle disorder that affects muscle function. The condition arises due to genetic mutations that impact the structure of muscle fibers. This can lead to muscle weakness and other complications over time.

2019年8月8日 · Myofibrillar myopathy is a condition in which the body muscles become weak and the person suffers from regular cramps and stiffness and can affect the heart as well. Know the causes, symptoms, and treatment of myofibrillar myopathy.

Myofibrillar myopathies are a group of conditions called myopathies that affect muscle function and cause weakness. They primarily affect skeletal muscles. A weakening of the heart muscle (cardiomyopathy) is also common and may manifest as arrhythmia, conduction defects or congestive heart failure.

Myofibrillar myopathies (MFMs) are a heterogeneous group of skeletal and cardiac muscle diseases. In this review, we highlight recent discoveries of new genes and disease mechanisms involved in this group of disorders.