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Rhabdomyolysis, Exercise-related: Associations

Systemic/MultisystemOMIM 106180
W
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Overview

From WUSTL Neuromuscular

Epidemiology Young males African-Americans, non-Hispanic Hospital visits/Year: 0.66 per 100,000 population Course: Usually non-recurrent Genetics: Exercise/Heat tolerance & Exercise performance Angiotensin 1-converting enzyme (ACE) ACE functions: Kininase II�type enzyme, influences bradykinin degradation Increased heat tolerance Insertion/deletion intron 16 alleles (rs1799752): I (Longer); D (Shorter; Higher ACE activity) Phosphorylase deficiency, Severe phenotype: More D alleles Normals I alleles More efficient response to muscle training More common: Endurance athletes D alleles More common

OMIM Entries

OMIM #106180OMIM #300034OMIM #620328

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.