Phenotype #0000324254

Individual ID 00433876
Associated disease MD
Phenotype details creatine kinase 8000 (IU/L); muscle weakness (hip adduction, hip extension); myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy mild myopathic features including internalized nuclei and type 1 fiber predominance; learning disability
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 12y (12 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 2023-03-15 17:16:36 +01:00 (CET)
Date last edited N/A

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