Cardiomyopathy and skeletal muscle diseases are a collective term for a group of diseases characterized by dysfunction of the heart and skeletal muscle. Clinically different types of cardiomyopathy and skeletal myopathy disease can be caused by a variety of factors. Skeletal muscle and myocardial dysfunction occur in Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy. Myocardium is a subtype of striated muscle and is also affected in many muscular dystrophies. Mutations in dystrophin lead to progressive weakness and wasting of skeletal muscle and myocardium, and the structural integrity of skeletal muscle and cardiomyocytes is also significantly impaired during physical stress. In addition, a variety of organ disabilities, including loss of ambulation, physical immobilization, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea and cardiomyopathy are also characteristic symptoms of such diseases.
Titin, encoded by TTN, is a giant protein which is related to dilated cardiomyopathy and several forms of skeletal muscle disease. Some researchers have found that patients with a heterozygous TTN deletion family have a facial dysfunction, gait abnormalities and a rare skeletal muscle phenotype associated with dilated cardiomyopathy. Therefore, analysis of TTN mutations is of great significance for cardiomyopathy and skeletal muscle disease. In addition, research shows a recessive mutation in the TOR1AIP1 gene which encodes a lamellar-associated polypeptide 1 (LAP1) abnormality that causes muscle atrophy with cardiac function and dystonia. Membrane lipoprotein precursor (MLP) and cofilin 2 (CFL2) are important regulatory proteins of myocyte function. Researchers have shown that MLP binds directly to CFL2 in human myocardium and skeletal muscle. Its mutants directly cause serious human heart and skeletal muscle diseases. In addition to the genes mentioned above, genes including DAG1, FKTN and SGCA are also highly associated with such diseases.
Based on the latest research report, we have selected a variety of representative genes that are highly correlated with cardiomyopathy and skeletal muscle disease. You can select the genes you want to detect in the panel library or customize your exclusive panel. We offer specialized targeted sequencing technologies to detect low-frequency genetic variants.
For more information about the Custom Cardiomyopathy and Skeletal Muscle Disease Panel or need other amplification requirements, please contact us.