Phenotype #0000158876

Individual ID 00210310
Associated disease MFM
Phenotype details mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal
Diagnosis/Initial myotilinopathy
Inheritance Familial
Diagnosis/Definite MFM-3
Age/Examination -
Age/Onset 40y
Phenotype/Onset leg aches upon exertion
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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