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

Neurology

Volumn 58, Issue 7, 2002, Pages 1118-1121

  King, Peter H ^a   Petersen, Niels E ^b,e   Rakhra, Ron ^c   Schreiber, William E ^c,d  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d VANCOUVER HOSPITAL AND HEALTH SCIENCES CENTRE   (Canada)

^e NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARISOPRODOL; DEXAMETHASONE; DIPHENHYDRAMINE; FAMOTIDINE; PETHIDINE; PORPHOBILINOGEN DEAMINASE; PROMETHAZINE; PROPOFOL;

ADULT; ARTICLE; BASE PAIRING; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MOTOR NEUROPATHY; POLYNEUROPATHY; PORPHYRIA; PRIORITY JOURNAL; RADIAL NERVE;

EID: 0037046215     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.7.1118     Document Type: Article

References (10)

1. The acute porphyrias
2. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
3. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria
4. Electrodiagnostic findings in acute porphyric neuropathy
5. On the nature of peripheral nerve lesions associated with acute intermittent porphyria
6. Effect of lead on δ-aminolevulinic acid dehydratase activity in red blood cells
7. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
8. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
9. Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site
10. Acute intermittent porphyria: Laboratory diagnosis by molecular methods