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TPM3-related myopathy

MONDO:0100108

TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.

Also known as: TPM3 myopathy, TPM3-related myopathy, congenital myopathy related to TPM3, autosomal dominant TPM3-related myopathy

38 clinical trials for this condition and its sub-types.

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Sub-types

Cap myopathy (0) Congenital myopathy 4A, autosomal dominant (0) Congenital myopathy 4B, autosomal recessive (0)

Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Hereditary neurological disease (5)
Trials to join now! 19 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1
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