Phenotype #0000159927

Individual ID 00211445
Associated disease MFM
Phenotype details progressive weakness (distal > proximal), tingling, numbness in the feet, muscle atrophy; peripheral neuropathy; cardiac RBBB, prolonged QT; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x
Diagnosis/Initial myofibrillar myopathy
Inheritance Familial, autosomal dominant
Diagnosis/Definite MFM
Age/Examination -
Age/Onset -
Phenotype/Onset -
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 2010-01-24 15:43:12 +01:00 (CET)
Date last edited 2012-03-04 15:57:43 +01:00 (CET)

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