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acetazolamide-responsive myotonia

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Mondo Term and Equivalent IDs
MONDO:0020483:  acetazolamide-responsive myotonia
Orphanet:99736: 
SCTID:715793003: