Global Variome shared LOVD

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Phenotype #0000319213 Individual ID 00412595 Associated disease MPD Phenotype details see paper; ..., raised serum creatine kinase level (646–1285 U/mL); childhood motor development normal; 30-50y-asymmetric thumb/grip weakness, atrophy thenar/hypothenar muscles and finger contractures; inability to stand on tiptoes, weakness/atrophy distal leg muscles; 60y-70y-asymmetric involvement proximal muscles, respiratory insufficiency, scoliosis, loss of ambulation Diagnosis/Initial distal myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2022-12-30 12:55:46 +01:00 (CET) Date last edited 2022-12-30 12:56:37 +01:00 (CET)

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