Article

An <i>in vivo</i> approach to characterize novel variants associated with musculoskeletal disorders

2021-05-27

Abstract excerpt

<h4>Summary</h4> Nemaline Myopathy (NM) is the most common congenital myopathy, characterized by extreme weakness of the respiratory, limb, and facial muscles. Pathogenic variants in Tropomyosin 2 ( TPM2 ), which encodes a skeletal muscle specific actin binding protein essential for sarcomere function, cause a spectrum of musculoskeletal disorders that include NM as well as Cap Myopathy, congenital fiber type d...

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Literature Corpus work: 60b96120-98b4-59b8-9b90-1fc51b9a9878
DOI: 10.1101/2021.05.27.445925

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