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 InternationalCreative Commons License
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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