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Article

Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jun 2020

Raj Joshi Pushpa, Sarangerel Jambal, Munkhbayar Rentsenbat, Gläser Dieter, Zierz Stephan

Abstract excerpt

Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness, pseudohypertrophic deltoid and gastrocnemius muscles since early childhood. Lactate dehydrogenase (LDH) and creatine kinase (CK) levels were elevated. Mutation analysis...

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Source

Identifiers

PMID: 32317190
DOI: 10.1016/j.jocn.2020.04.065

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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