Phenotype #0000321443

Individual ID 00430668
Associated disease MYOP
Phenotype details distal weakness; nornal CK level; electrodiagnosis myopathic with fibrillation potentials, myotonic discharges; muscle biopsy myopathy, rare rimmed vacuoles, minicores, congophilic inclusions
Diagnosis/Initial myotonic dystrophy
Inheritance Unknown
Diagnosis/Definite WDM; MPD1;CMH1
Age/Examination 67y (67 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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