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Article

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.

Neuromuscular disorders : NMD - 1 Jan 2023

Sabanathan Saraswathy, Gulhane Deepti, Mankad Kshitij, Davison James, Ong Min Tsui, Phadke Rahul, Robinson Robert, Spiller Michael, Wakeling Emma, Ramdas Sithara, Brady Angela F, Balasubramanian Meena, Munot Pinki

Abstract excerpt

Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive investigations. Improved understanding of the clinical phenotype can support early monitoring of complications due to respiratory insufficiency. We present six...

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PMID: 36522252
DOI: 10.1016/j.nmd.2022.10.004

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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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