Global Variome shared LOVD

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

Phenotype #0000119614 Individual ID 00146979 Associated disease MDC Phenotype details teenage years progressive weakness, loss of ambulation, severe scoliosis; 35y myopathic facies, dysarthria, tongue/calf hypertrophy; lost ambulation; normal intelligence; CPK 4100 U/l Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC severely reduced glycosylated DAG1; WB no DAG1, LAMA2 reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-08-16 23:42:45 +02:00 (CEST) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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