Global Variome shared LOVD

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Phenotype #0000051913 Individual ID 00072207 Associated disease ? Diagnosis/Initial myopathy Diagnosis/Definite myopathy, myofibrillar, type 1 (MFM-1) Phenotype details atrioventricular block (HP:0001678), pace maker, diastolic left ventricle dysfunction (HP:0001711), Elevated serum creatine phosphokinase (HP:0003236), Inheritance Familial, autosomal dominant Age/Examination 37y (37 years) Age/Diagnosis 35y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-31 14:26:59 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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