Global Variome shared LOVD

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

Phenotype #0000321241 Individual ID 00430444 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite - Phenotype details muscle weakness, hyperCKemia; muscle biopsy chronic myopathic, fiber splitting Inheritance Familial, autosomal recessive Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-01-20 11:39:52 +01:00 (CET) Date last edited N/A

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