Phenotype #0000143952

Individual ID 00183198
Associated disease MFM
Phenotype details toe walker (early childhood); early teens restrictive cardiomyopathy;13y-heart transplant; 15y-severe diffuse muscle weakness, atrophy, contractures knees/ankles, bilateral diaphragm paralysis, respiratory insufficiency; raised CPK (3x)
Diagnosis/Initial MFM-B
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-6
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein BAG3 wide and faster migrating band
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-03-11 21:40:57 +01:00 (CET)
Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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