Global Variome shared LOVD

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

Phenotype #0000159922 Individual ID 00211440 Associated disease MFM Phenotype details progressive weakness (distal > proximal); no peripheral neuropathy; cardiac paroxysmal supraventricular tachycardia; EMG myopathic MUPs, fibrillation potentials; CPK raised 2x Diagnosis/Initial myofibrillar myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite MFM Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-01-24 15:43:12 +01:00 (CET) Date last edited 2012-03-04 15:57:43 +01:00 (CET)

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