Global Variome shared LOVD

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Phenotype #0000158887 Individual ID 00210321 Associated disease MFM Phenotype details 67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2ñ3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; no raised CPK level (-HP:0003236) normal Diagnosis/Initial myotilinopathy Inheritance Isolated (sporadic) Diagnosis/Definite MFM-3 Age/Examination - Age/Onset 59y Phenotype/Onset foot drop 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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