Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125063 Individual ID 00102199 Associated disease MDC Phenotype details dystrophy, muscular, congenital; delayed motor milestones (climb up/down staircase 10y); 35y walk with support, slowly progressive muscle weakness; 39y respiratory distress; MRI brain diffuse leucodystrophic changes; muslce biopsy dystrophic changes; ro16m, w6y; wheelchair bound 39y Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC/WB partially positive LAMA2, no LAMA2 peripheral nerve Schwann cell basal lamina Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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