Phenotype #0000344087

Global Variome shared LOVD

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

Individual ID	00455533
Associated disease	MD
Phenotype details	elevated CK level (60.5x), EMG myopathic
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR2
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC no DYSF
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-11 17:12:29 +02:00 (CEST)
Date last edited	N/A

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