Global Variome shared LOVD

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Phenotype #0000125008 Individual ID 00102116 Associated disease MDC Phenotype details dystrophy, muscular, congenital; generalized hypotonia, no head control/sit, absent deep tendon reflexes CT-scan brain diffuse low density areas cerebral white matter, EMG myogenic patterns; died of pneumonia caused by respiratory deficit; CPK: 1214 U/L; delayed Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 1y4m Phenotype/Onset delayed motor milestones Protein IHC no LAMA2 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 08:33:42 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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