Global Variome shared LOVD

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Phenotype #0000359256 Individual ID 00474463 Associated disease MD Phenotype details ambulant with aid; creatine kinase level (6000 U/L); diabetes Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset weakness on walking on toes 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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