Phenotype #0000332576

Individual ID 00443229
Associated disease BMD/DMD
Diagnosis/Initial BMD-like
Diagnosis/Definite -
Phenotype details right lower limb weakness; no delayed walking (-HP:0031936); no loss ambulation (-HP:0002505); no gastrocnemius hypertrophy; no tendon contractures (-HP:0001771); myalgia (HP:0003326), muscle spasm (HP:0003394); creatine kinase 6812 IU/l; echocardiology normal; muscle biopsy gastrocnemius dystrophic
Inheritance Familial, X-linked recessive
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset 18y
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 2023-11-24 16:14:38 +01:00 (CET)
Date last edited N/A

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