Phenotype #0000027724

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00034328
Associated disease	GSD5
Phenotype details	cramp, Hyper-CK-emia, and mild weakness of pelvic muscles; muscle myopathic pattern with a few hypercontracted fibers; elevated CK (2498 IU/L); ECG or echo normal; no family history
Diagnosis/Initial	McArdle disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	GSD5
Age/Examination	-
Age/Diagnosis	22y
Age/Onset	18y
Phenotype/Onset	-
Protein	-
Owner name	Gisela Nogales
Database submission license
Created by	Johan den Dunnen
Date created	2015-03-09 11:26:08 +01:00 (CET)
Date last edited	2019-12-30 10:20:55 +01:00 (CET)

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