Phenotype #0000342017

Individual ID 00453354
Associated disease MD
Phenotype details see paper; ..., 16m-walk; 7y-frequent falls, difficulty running/standing up from floor, prominent calf hypertrophy, pelvic girdle weakness, Gowers' sign, elevated serum creatine kinase levels (14,050 u/L); 21y-osteoporosis; 24y-fractures femur/ankle, leading to loss of independent ambulation, significant weight gain
Diagnosis/Initial muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite DMD
Age/Examination 24y (24 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 2024-08-19 12:24:18 +02:00 (CEST)
Date last edited N/A

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