Phenotype #0000342119

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00453455
Associated disease	BTHLM1A
Phenotype details	Myopathy, Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2024-08-30 15:41:30 +02:00 (CEST)
Date last edited	2024-09-02 09:35:23 +02:00 (CEST)

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