Phenotype #0000054206

Individual ID 00074387
Associated disease MD
Phenotype details symptomatic female; muscular biopsy compatible with dystrophinopathy; no mental retardation; raised CPK 15.000 UI/L
Diagnosis/Initial BMD
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 23y (23 years)
Age/Diagnosis 20y
Age/Onset 3y
Phenotype/Onset -
Protein biopsy BMD
Owner name Florencia Giliberto
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florencia Giliberto
Date created 2016-06-01 22:02:28 +02:00 (CEST)
Date last edited 2018-11-24 15:14:37 +01:00 (CET)

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