Global Variome shared LOVD

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

Phenotype #0000282217 Individual ID 00388677 Associated disease MYOP Diagnosis/Initial - Diagnosis/Definite - Phenotype details proximal muscle weakness; CK level 2261 IU/L; difficulty getting up from ground, Winging of scapula, calf hypertrophy; Most-affected muscle-weakness: Mild upper and lower girdle weakness; no cardiac involvement; 19y-ambulant Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 14y 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 2021-11-04 20:51:09 +01:00 (CET) Date last edited 2021-11-04 21:20:02 +01:00 (CET)

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