Article

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

2022-03-19

Abstract excerpt

Dystonin ( DST ), which encodes cytoskeletal linker proteins, express three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e. DST mutations cause different disorders including hereditary sensory and autonomic neuropathy 6 (HSAN-VI) and epidermolysis bullosa simplex; however, etiology of the muscle phenotype in DST -related diseases has been unclear. Because DST-b contains all of th...

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Literature Corpus work: 689d7b9d-ab8d-5259-a17c-769a9de0ba0c
DOI: 10.1101/2022.03.17.484743

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