Global Variome shared LOVD

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

Phenotype #0000125412 Individual ID 00132010 Associated disease MDC Phenotype details elevated serum creatine phosphokinase (HP:0003236), progressive proximal muscle weakness (HP:0009073) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Angela Gruber Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-10-07 17:03:55 +02:00 (CEST) Date last edited N/A

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