Global Variome shared LOVD

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

Phenotype #0000331971 Individual ID 00442624 Associated disease BTHLM Diagnosis/Initial Bethlem myopathy Diagnosis/Definite - Phenotype details CK 1000 IU/L; MRI muscle typical; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency Inheritance Unknown Age/Examination - Age/Diagnosis 48y Age/Onset - Phenotype/Onset hyperckemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 09:55:12 +01:00 (CET) Date last edited N/A

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