Phenotype #0000158878

Individual ID 00210312
Associated disease MFM
Phenotype details 55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x
Diagnosis/Initial myotilinopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 55y
Phenotype/Onset difficulty walking
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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