Global Variome shared LOVD

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

Phenotype #0000125272 Individual ID 00102477 Associated disease MDC Phenotype details MRI brain suggestive of leukodystrophy; muscle biopsy merosin deficiency; CPK: 3878 Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC LAMA2 deficient Owner name Tom Winder Database submission license No license selected Created by Tom Winder Date created 2011-08-30 22:16:49 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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