Global Variome shared LOVD

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

Phenotype #0000164291 Individual ID 00215839 Associated disease MMD Phenotype details muscle biopsy amyloid; CPK elevated (HP:0003236) 1758; lost ability to walk (HP:0006957) 54y Diagnosis/Initial Myoshi myopathy Inheritance Unknown Diagnosis/Definite MMD-1 Age/Examination - Age/Diagnosis - Age/Onset 15y Phenotype/Onset weakness distal lower extremities Protein IHC no DYSF, CAV3 normal, UTRN upregulated Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-01-03 10:37:11 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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