Phenotype #0000321448

Individual ID 00430673
Associated disease MYOP
Phenotype details childhood-onset exertional myalgia, calf enlargement, asymmetric weakness (mainly quads, flexor digitorum profundus); raised CK level 683 IU/L; electrodiagnosis myopathic with fibrillation potentials; myotonic dischargers (paraspinals); muscle biopsy autoaggressive inflammation, rimmed vacuoles, congophilic inclusions, reduced caveolin-3 immunoreactivity
Diagnosis/Initial myotonic dystrophy
Inheritance Unknown
Diagnosis/Definite MPDT; sporadic inclusion body myositis
Age/Examination 58y (58 years)
Age/Diagnosis -
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 2023-01-22 15:18:59 +01:00 (CET)
Date last edited N/A

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