Phenotype #0000231932

Individual ID 00306084
Associated disease MD
Phenotype details max milestone 3y-walk; no contractures; elevated CK level (highest 904 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 3y-dystrophic
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite EDMD2;LGMD1B
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset 1y2m
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 2020-07-07 09:28:36 +02:00 (CEST)
Date last edited N/A

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