Global Variome shared LOVD

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

Phenotype #0000109969 Individual ID 00137221 Associated disease BMD Phenotype details no muscle weakness, atrophy, hypertrophy; family history cardiac disease (incl. death); elevated serum CPK (HP:0003236) 1800; no intellectual disability (-HP:0001249) Diagnosis/Initial dystrophy, muscular, Becker type (BMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Onset 7y Phenotype/Onset exercise intolerance, recurrent myoglobinuria (red-brown urine) Age/Diagnosis - Protein IHC DMD faint; WB DMD 306 kDa Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-05-08 18:04:45 +02:00 (CEST) Date last edited 2012-03-09 19:02:28 +01:00 (CET)

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