Phenotype #0000125102

Individual ID 00102531
Associated disease MDC
Phenotype details dystrophy, muscular, congenital; calf muscle hypertrophy, contractures right equinovarus, CT-scan brain accentuated white matter hypodensity, 3y-ECG normal; CPK: 221929; w3.5y; wheelchair bound >12y
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset <6m
Phenotype/Onset -
Protein IHC reduced LAMA2
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 2011-12-20 00:00:33 +01:00 (CET)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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