Global Variome shared LOVD

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Phenotype #0000111246 Individual ID 00138498 Associated disease MDC Phenotype details severe progressive muscle weakness; floppy as newborn, delayed motor milestones; loss ability to walk (HP:0006957) 4y Diagnosis/Initial dystrophy, muscular, congenital (CMD) Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset floppy Protein IHC DMD at sarcolemma, no UTRN Owner name Svetlana Gorokhova Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-04-20 17:26:20 +02:00 (CEST) Date last edited 2021-06-29 15:35:36 +02:00 (CEST)

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