Phenotype #0000153577

Individual ID 00205384
Associated disease MFM
Phenotype details elevated serum creatine phosphokinase (HP:003236) 6.4x;
Diagnosis/Initial myofibrillar myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-2
Age/Examination -
Age/Onset 52y
Phenotype/Onset ventilatory insufficiency, paralysis right/reduced movement left diaphragm
Protein -
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 2010-03-14 16:02:14 +01:00 (CET)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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