Phenotype #0000158888

Individual ID 00210322
Associated disease MFM
Phenotype details 85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; CPK level 1.5-2x
Diagnosis/Initial myotilinopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 76y
Phenotype/Onset bilateral foot drop, weak finger flexion
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 2012-03-09 19:08:25 +01:00 (CET)

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