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Variegate Porphyria

MitochondrialOther NeuromuscularOMIM 600923
W
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Overview

From WUSTL Neuromuscular

● PPOX location: Mitochondrial intermembrane space Clinical features Acute attacks & Neuropathy Features similar to Acute Intermittent porphyria Skin photosensitivity Frequent in South Africa due to a founder effect Laboratory features Elevated fecal coproporphyrin & protoporphyrin between attacks

OMIM Entries

OMIM #600923

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.