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Article

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

2 Mar 1999

Abstract excerpt

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease presents early in life with hypoketotic hypoglycemia or later in life with skeletal myopathy or cardiomyopathy. The gene for this condition maps to 5q31.2-32 and OCTN2, an organic cation/carnitine transporter, also maps to the same chromosomal region. Here we test the...

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PMID: 10051646
DOI: 10.1073/pnas.96.5.2356

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Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiencyPMID 10051646Read ↗

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