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Article

[Giant axonal neuropathy. Presentation of 2 familial cases].

Neurologia (Barcelona, Spain) - 1 Jan 2000

Maraví Petri E, García-Bragado F, Martín Ruiz E, Guarch R, Ruiz de Azúa Y, Yoldi M E

Abstract excerpt

A review of 20 cases of giant axonal neuropathy (4 of them familial) described in the literature, and two new cases in brothers whose parents had no consanguinity is reported. A recessive autosomic pattern of inheritance is suggested. Curly hair, a typical phenotypic feature, was not initially present in our cases. This feature developed, however, later in the older brother. Clinical manifestations include an...

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PMID: 2698683

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