Phenotype #0000209376

Individual ID 00274433
Associated disease MD
Phenotype details proximal muscle weakness and ankle contracture; muscle myopathic pattern; elevated CK (361 IU/L); ECG or echo normal; no family history
Diagnosis/Initial Bethlem myopathy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 02y
Age/Onset 01y06m
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 2019-12-30 09:59:36 +01:00 (CET)
Date last edited 2019-12-30 10:32:41 +01:00 (CET)

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