Phenotype #0000158885

Individual ID 00210319
Associated disease MFM
Phenotype details distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying); raised CPK level (HP:0003236) 2x
Diagnosis/Initial myotilinopathy
Inheritance Familial
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 45y
Phenotype/Onset difficulty climbing stairs
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 2012-03-04 15:57:47 +01:00 (CET)

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