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 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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