Phenotype #0000106584

Global Variome shared LOVD

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

Individual ID	00133835
Associated disease	MD
Phenotype details	proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 68 U/L; 16y-loss ambulation; no cardiac involvement; 35y-invasive ventilation
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	06y
Phenotype/Onset	-
Protein	-
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2007-07-13 16:38:45 +02:00 (CEST)
Date last edited	2020-10-04 12:10:34 +02:00 (CEST)

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