Phenotype #0000348312

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00460590
Associated disease	MYOP
Phenotype details	see paper; ..., muscle weakness beginning 20y-29y; CK levels mildly elevated; EMG myopathic changes
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MRUPAV
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-27 16:42:39 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.