Phenotype #0000158880

Individual ID 00210314
Associated disease MFM
Phenotype details bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x
Diagnosis/Initial myotilinopathy
Inheritance Familial
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 59y
Phenotype/Onset weakness finger extensors
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 2009-12-31 16:05:02 +01:00 (CET)
Date last edited 2012-03-04 15:57:47 +01:00 (CET)

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