Phenotype #0000231933

Global Variome shared LOVD

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

Individual ID	00306085
Associated disease	MD
Phenotype details	max milestone 38y-walk; contractures ankle; elevated CK level (highest 800 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 38y0dystrophic
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	EDMD2;LGMD1B
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-07 09:28:36 +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.