Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

doi:10.1016/j.nmd.2024.03.011

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Article

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

Neuromuscular disorders : NMD - 1 Jun 2024

Polavarapu Kiran, O'Neil Daniel, Thompson Rachel, Spendiff Sally, Nandeesh Bevinahalli, Vengalil Seena, Huddar Akshata, Baskar Dipti, Arunachal Gautham, Kotambail Ananthapadmanabha, Bhatia Saloni, Tumulu Seetam Kumar, Matalonga Leslie, Töpf Ana, Laurie Steven, Zeldin Joshua, Nashi Saraswati, Unnikrishnan Gopikrishnan, Nalini Atchayaram, Lochmüller Hanns

Abstract excerpt

Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and...

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PMID: 38669730
DOI: 10.1016/j.nmd.2024.03.011

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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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