Global Variome shared LOVD

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

Phenotype #0000163811 Individual ID 00215359 Associated disease myalgia Phenotype details symptomatic carrier; calf myalgias, mild walking difficulty, distal weakness, asymmatric calf hypertrphy; CPK elevated (HP:0003236) 600-800 Diagnosis/Initial myalgia Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Onset 65y Phenotype/Onset progressive difficulty walking, myalgias Protein WB and IHC DYSF reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-24 21:14:03 +02:00 (CEST) Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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