Global Variome shared LOVD

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Phenotype #0000125100 Individual ID 00102529 Associated disease MDC Phenotype details dystrophy, muscular, congenital; no muscle hypertrophy, contractures hips/knees/elbows/heel cords, MRI brain white matter attenuation, 5y-ECG normal; CPK: 21063; sit supported; never walked Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-12-20 00:00:33 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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