Phenotype #0000106754

Global Variome shared LOVD

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

Individual ID	00134005
Associated disease	MD
Phenotype details	>50x elevated CPK (HP:0003236)
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC no SGCG, mild reduction SGCA, normal DMD/LAMA2/SGCB/SGCD
Owner name	Masafumi Matsuo
Database submission license	No license selected
Created by	Masafumi Matsuo
Date created	2010-05-21 21:45:02 +02:00 (CEST)
Date last edited	2012-03-09 18:27:00 +01:00 (CET)

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