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Article

Hereditary inclusion-body myopathies.

Biochimica et biophysica acta - 1 Apr 2015

Broccolini Aldobrando, Mirabella Massimiliano

Abstract excerpt

The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulofilaments as revealed by muscle biopsy. The most common form of HIBM is due to mutations of the GNE gene that codes for a rate-limiting enzyme in the sialic...

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Source

Identifiers

PMID: 25149037
DOI: 10.1016/j.bbadis.2014.08.007

Genes

GNE

Provenance

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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