Phenotype #0000268822

Individual ID 00373548
Associated disease MD
Phenotype details 11y11m-walk; contractures ankle, knee, hip; lordosis; higherst CK level 371 (U/L); ECG normal; UCG normal; EMG normal; 4y-muscle biopsy dystrophic
Diagnosis/Initial congenital muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1d
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 2021-05-17 11:33:20 +02:00 (CEST)
Date last edited N/A

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