Global Variome shared LOVD

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Phenotype #0000359274 Individual ID 00474481 Associated disease MD Phenotype details 26y-wheelchair (frequent falls, serious ligament injuries both knees); creatine kinase level (8000 U/L); deltoid muscle hypertrophy; intrafamilial variability Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset 13y Phenotype/Onset difficulty climbing stairs, walking with back pain Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-17 19:02:00 +01:00 (CET) Date last edited N/A

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