Global Variome shared LOVD

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

Phenotype #0000282216 Individual ID 00388676 Associated disease MYOP Phenotype details proximal muscle weakness; CK level 91 IU/L; difficulty getting up from ground; Muscles most affected: Iliopsoas, hip adductors, hamstrings and quadriceps; no cardiac involvement; 6y-ambulant Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset 02y 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 21:43:19 +01:00 (CET)

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