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Article

Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.

International journal of rheumatic diseases - 1 Feb 2024

Du Hongjia, Chen Yan, Zeng Li, Wu Rui, Wu Tong, Zhu Jing

Abstract excerpt

Myofibrillar myopathies (MFMs) are a group of genetically heterogeneous diseases affecting the skeletal and cardiac muscles. Myofibrillar myopathies are characterized by focal lysis of myogenic fibers and integration of degraded myogenic fiber products into inclusion bodies, which are typically rich in desmin and many other proteins. Herein, we report a case of a 54-year-old woman who experienced bilateral thigh...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38333999
DOI: 10.1111/1756-185X.15036

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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