Global Variome shared LOVD

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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 International 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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