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Article

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

European journal of medical genetics - 1 Dec 2020

Fradin Melanie, Lavillaureix Alinoe, Jaillard Sylvie, Quelin Chloe, Sauleau Paul, Minot Marie-Christine, Menard Dominique, Edan Gilles, Ceballos Irene, Treguier Catherine, Proisy Maia, Magdelaine Corinne, Lia Anne-Sophie, Odent Sylvie, Pasquier Laurent

Abstract excerpt

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) (Kennerson et...

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Identifiers

PMID: 33137485
DOI: 10.1016/j.ejmg.2020.104087

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