Phenotype #0000348311

Global Variome shared LOVD

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

Individual ID	00460589
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	MRUPAV
Phenotype details	see paper; ..., slowly progressing proximal lower limb weakness beginning 45y–65y; serum creatine kinase (CK) levels normal to mildly elevated; EMF myopathic changes, myotonic discharges; some patients (III4, III5, III6) asymptomatic but showed EMG myopathic changes
Inheritance	Familial, autosomal dominant
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 16:26:45 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.