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Article

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Molecular genetics and metabolism - 1 Mar 2013

Prasad Chitra, Melançon Serge B, Rupar C Anthony, Prasad Asuri N, Nunez Laura Dempsey, Rosenblatt David S, Majewski Jacek

Abstract excerpt

Three deceased infants from a Pakistani consanguineous family presented with a similar phenotype of cholestatic liver disease, hypotonia, severe failure to thrive, recurrent vomiting, renal tubulopathy, and a progressive neurodegenerative course. Mitochondrial DNA depletion syndrome was considered in view of multisystem involvement. Exome sequencing, revealed a homozygous novel mutation c.1183T>C (p.F395L) in...

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PMID: 23375728
DOI: 10.1016/j.ymgme.2012.12.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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