Global Variome shared LOVD

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

Phenotype #0000164174 Individual ID 00215722 Associated disease MMD Phenotype details waddling gait; CPK elevated (HP:0003236) 2462; still able to walk (-HP:0006957) 30y Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD-1 Age/Examination - Age/Diagnosis - Age/Onset 17y Phenotype/Onset instabilty standing toes Protein - 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 10:37:10 +01:00 (CET) Date last edited 2012-03-04 15:57:31 +01:00 (CET)

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