Phenotype #0000321178

Global Variome shared LOVD

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

Individual ID	00430381
Associated disease	MYOP
Phenotype details	see paper; ..., myalgia and severe episodes of rhabdomyolysis; trigger mild exercise, muscle overuse; CK 1287 U/l, highest 60000; MRI muscle normal
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMCKR
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	8m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-19 17:29:53 +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.