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Article

PYROXD1-associated myopathy.

BMJ case reports - 29 Mar 2024

D'Costa Matthew Selwyn, Bugiardini Enrico, Merve Ashirwad, Morrow Jasper M

Abstract excerpt

PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent...

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Identifiers

PMID: 38553017
DOI: 10.1136/bcr-2024-259907
PMCID: PMC10982700

Genes

PYROXD1

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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