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Article

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Neuromuscular disorders : NMD - 1 Jun 2026

Aleisa Zahra A, Yoon Grace, Friant Sylvie, Rinaldi Bruno, Roessel Nathan, Dollfus Hélène, Evesson Frances, Cooper Sandra T, Gonorazky Hernan

Abstract excerpt

PYROXD1-related myopathy is a rare genetic disorder with variable age of onset, ranging from the neonatal period to late adulthood. We report a male infant presenting with congenital hypotonia, progressive severe weakness, respiratory insufficiency, stridor, and ophthalmoplegia. Muscle biopsy revealed fibre size variation, internalized nuclei, and myofibrillary changes with sarcoplasmic disorganization. Genetic...

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

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Mutation, Missense

Share to Oxidoreductases Acting on Sulfur Group Donors

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Identifiers

PMID: 41966785
DOI: 10.1016/j.nmd.2026.106417

Genes

PYROXD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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