Global Variome shared LOVD

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

Phenotype #0000158876 Individual ID 00210310 Associated disease MFM Phenotype details mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal Diagnosis/Initial myotilinopathy Inheritance Familial Diagnosis/Definite MFM-3 Age/Examination - Age/Onset 40y Phenotype/Onset leg aches upon exertion Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-12-31 16:05:02 +01:00 (CET) Date last edited 2012-03-04 15:57:47 +01:00 (CET)

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