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Article

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.

Journal of human genetics - 1 Oct 2021

Inoue-Shibui Aya, Niihori Tetsuya, Kobayashi Michio, Suzuki Naoki, Izumi Rumiko, Warita Hitoshi, Hara Kenju, Shirota Matsuyuki, Funayama Ryo, Nakayama Keiko, Nishino Ichizo, Aoki Masashi, Aoki Yoko

Abstract excerpt

Heat shock protein family B member 8, encoded by HSPB8, is an essential component of the chaperone-assisted selective autophagy complex, which maintains muscle function by degrading damaged proteins in the cells. Mutations in HSPB8 have been reported to cause Charcot-Marie-Tooth type 2L, distal hereditary motor neuropathy IIa, and rimmed vacuolar myopathies (RVM). In this study, we identified a novel heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33744911
DOI: 10.1038/s10038-021-00916-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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