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Article

Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.

Virchows Archiv : an international journal of pathology - 1 Dec 2007

Boito Chiara A, Fanin Marina, Gavassini Bruno F, Cenacchi Giovanna, Angelini Corrado, Pegoraro Elena

Abstract excerpt

Limb girdle muscular dystrophy type 2I (LGMD2I) is due to mutations in the fukutin-related protein gene (FKRP), encoding a putative glycosyltransferase involved in alpha-dystroglycan processing. To further characterize the molecular pathogenesis of LGMD2I, we conducted a histological, immunohistochemical, ultrastructural and molecular analysis of ten muscle biopsies from patients with molecularly diagnosed...

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Share to Dystroglycans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 17952692
DOI: 10.1007/s00428-007-0515-3

Genes

FKRP

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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Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.PMID 17952692Read ↗

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