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Article

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

American journal of human genetics - 1 Aug 2001

Dagenais S L, Adam A N, Innis J W, Glover T W

Abstract excerpt

Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency disorders resulting from mutations in ATP7A, or MNK. Classic Menkes disease has a severe phenotype, with death in early childhood, whereas OHS has a milder phenotype, with, mainly, connective-tissue abnormalities. Data suggest that steady-state localization of ATP7A to the trans-Golgi network (TGN) is necessary for...

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Identifiers

PMID: 11431706
DOI: 10.1086/321290
PMCID: PMC1235313

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A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.PMID 11431706Read ↗

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