Phenotype #0000158884

Individual ID 00210318
Associated disease MFM
Phenotype details 81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes; no raised CPK level (-HP:0003236) normal
Diagnosis/Initial myotilinopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 66y
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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