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Article

Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.

American journal of medical genetics. Part A - 1 Dec 2004

Melegh Béla, Bene Judit, Mogyorósy Gábor, Havasi Viktória, Komlósi Katalin, Pajor László, Oláh Eva, Kispál Gyula, Sumegi Balázs, Méhes Károly

Abstract excerpt

In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. Carnitine treatment resulted in dramatic improvement of the cardiac symptoms,...

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PMID: 15487009
DOI: 10.1002/ajmg.a.30207

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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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