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Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).

Steller, J

Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). [electronic resource] - Neuropediatrics Feb 2014 - 56-60 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1439-1899

Standard No.: 10.1055/s-0033-1341601 doi

Subjects--Topical Terms:
Adolescent
Exons--genetics
Follow-Up Studies
Humans
Male
Mutation
Phenotype
Pyruvate Dehydrogenase (Lipoamide)--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis

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