Global Variome shared LOVD

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Phenotype #0000351843 Individual ID 00466480 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite MPXPS Phenotype details see paper; ..., 2y-walk, delayed milestone; short stature, hypertrophic muscles, proximal weakness, elevated CK; EMG/biopsy confirm slowly progressive mitochondrial myopathy, hypertrophic type-1 fibers, degeneration Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 13:09:59 +02:00 (CEST) Date last edited N/A

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