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Article

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.

Neuromuscular disorders : NMD - 1 Jul 2023

Blanco-Arias Patricia, Medina Martínez Inmaculada, Arrabal Fernández Luisa, Rivas Infante Eloy, Salmerón Fernández Maria Jose, González Hervás Catalina, Azcón González de Aguilar Pilar, Armengol Lluis, Pedrinaci Susana, Perin Francesca

Abstract excerpt

X-linked myopathy with excessive autophagy is a rare inherited disease characterized by aberrant accumulation of autophagic vacuoles in skeletal muscle. Affected males usually show a slow progression and the heart is characteristically spared. We present four male patients from the same family with an extremely aggressive form of this disease, requiring permanent mechanical ventilation from birth. Ambulation was...

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Source

Identifiers

PMID: 37329680
DOI: 10.1016/j.nmd.2023.05.008

Genes

VMA21

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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