Phenotype #0000107872

Individual ID 00135123
Associated disease BMD/DMD
Diagnosis/Initial manifesting carrier (DMD)
Diagnosis/Definite manifesting carrier
Phenotype details exercise-induced myalgia; childhood-progressive toe walking gait; 16y-Achilles tenotomy; elevated serum CPK (HP:0003236) 680
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset isolated lower limb hypertrophy
Protein IHC patchy, 30% no DMD; WB DMD 20%
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 2009-10-09 18:43:52 +02:00 (CEST)
Date last edited 2012-03-09 19:39:25 +01:00 (CET)

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