Phenotype #0000051918

Individual ID 00072213
Associated disease ?
Diagnosis/Initial myopathy
Diagnosis/Definite myopathy, myofibrillar, type 1 (MFM-1)
Phenotype details Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308), left anterior fascicular hemiblock (HP:0011711), Right bundle branch block (HP:0011712), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), Palpitations (HP:0001962), dilated cardiomyopathy (HP:0001644), Muscular weakness (HP:0001324), limb-girdle muscular dystrophy (HP:0006785), elevate serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), implantable cardioverter-defibrillator, coronary artery disease (HP:0001677)
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308)
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-01 09:26:17 +02:00 (CEST)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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