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Article

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.

American journal of medical genetics. Part A - 1 Jun 2021

Daimagüler Hülya-Sevcan, Akpulat Ugur, Özdemir Özkan, Yis Uluc, Güngör Serdal, Talim Beril, Diniz Gülden, Baydan Figen, Thiele Holger, Altmüller Janine, Nürnberg Peter, Cirak Sebahattin

Abstract excerpt

Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by muscle weakness at birth, while limb-girdle muscular dystrophies (LGMD) have a later onset and slower disease progression. Thus, detailed clinical phenotyping of genetically defined disease entities are required for the full understanding of genotype-phenotype correlations. A recently defined myopathic genetic...

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PMID: 33694278
DOI: 10.1002/ajmg.a.62148

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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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