Global Variome shared LOVD

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

Phenotype #0000163884 Individual ID 00215432 Associated disease MMD Phenotype details muscle biospy no inflammation; 10y progression, still ambulant; CPK elevated (HP:0003236) 50x; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957) Diagnosis/Initial Myoshi myopathy Inheritance Familial Diagnosis/Definite MMD-1 Age/Examination - Age/Diagnosis >53y Age/Onset 45y Phenotype/Onset - Protein IHC DYSF severly reduced Owner name Nicolas Levy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 14:43:34 +01:00 (CET) Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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