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Neurology. 2002 Apr 9;58(7):1118-21.

Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation.

Author information

1
Department of Neurology, University of Alabama at Birmingham and the Birmingham VA Medical Center, 32594, USA. pking@uab.edu

Abstract

The authors identified a novel mutation of the porphobilinogen deaminase (PBG-D) gene in a patient with acute intermittent porphyria presenting with severe and bilateral axonal radial motor neuropathy. Electrophysiologic studies revealed prominent involvement of distal radial nerves in the setting of mild polyneuropathy. Analysis of the PBG-D gene revealed a single base-pair insertion (887insA) in exon 14.

PMID:
11940707
DOI:
10.1212/wnl.58.7.1118
[Indexed for MEDLINE]

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