Global Variome shared LOVD

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

Phenotype #0000209349 Individual ID 00274406 Associated disease MD Phenotype details proximal muscle weakness and respiratory failure; muscle dystrophic pattern with glycogen accumulation on PAS stain; elevated CK (242 IU/L); bradycardia; familial Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 40y Age/Onset 30y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-30 09:59:36 +01:00 (CET) Date last edited N/A

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