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Article

Menkes disease in affected females: the clinical disease spectrum.

American journal of medical genetics. Part A - 1 Feb 2015

Smpokou Patroula, Samanta Monisha, Berry Gerard T, Hecht Leah, Engle Elizabeth C, Lichter-Konecki Uta

Abstract excerpt

Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting (pili torti), cerebrovascular tortuosity, and bladder diverticulae. Menkes disease phenotypes have been reported in females with...

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Identifiers

PMID: 25428120
DOI: 10.1002/ajmg.a.36853
PMCID: PMC4351723

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