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Up to: Hereditary neurological disease · Congenital nervous system disorder · Congenital myopathy · Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
TPM2-related myopathy
A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.
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Central core myopathy 2 trials
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Congenital myopathy 23 0 trials