Global Variome shared LOVD

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Phenotype #0000350327 Individual ID 00464265 Associated disease MD Phenotype details see paper; ..., creatine kinase level 2597 U/L; EMG myogenic; MRI brain periventricular leukopathy, genral cerebral atrophy; myopathic changes Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MDC1A Age/Examination - Age/Diagnosis 8m Age/Onset 1d 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 2025-02-24 19:36:55 +01:00 (CET) Date last edited 2025-02-24 19:45:44 +01:00 (CET)

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