Phenotype #0000051915

Individual ID	00072210
Associated disease	?
Diagnosis/Initial	myopathy
Diagnosis/Definite	myopathy, myofibrillar, type 1 (MFM-1)
Phenotype details	premature ventricular beat (HP:0004308), Distal myopathy (HP:0003198), complete atrioventricular block (HP:0001678), pacemaker, Dilated cardiomyopathy (HP:0001644), Elevated serum creatine phosphokinase (HP:0003236), Endocardial fibrosis (HP:0006685),
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	32y
Phenotype/Onset	Distal myopathy (HP:0003198)
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-05-31 15:13:57 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD