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Article

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

eLife - 9 Aug 2022

Yoshioka Nozomu, Kurose Masayuki, Yano Masato, Tran Dang Minh, Okuda Shujiro, Mori-Ochiai Yukiko, Horie Masao, Nagai Toshihiro, Nishino Ichizo, Shibata Shinsuke, Takebayashi Hirohide

Abstract excerpt

Dystonin (DST), which encodes cytoskeletal linker proteins, expresses 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 the...

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Identifiers

PMID: 35942699
DOI: 10.7554/eLife.78419
PMCID: PMC9365387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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