Global Variome shared LOVD

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Phenotype #0000272250 Individual ID 00377059 Associated disease MD Phenotype details pProximal muscle weakness, positive Gowers sign, calf hypertrophy, elevated serum CK (24000 U/L); 9y-ambulant, toe walking; no cardiac/respiratory involvement; mother muscle pain, elevated serum CK (500 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset 03y06m Phenotype/Onset - Protein WB 0-0.05 DMD Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-29 21:55:43 +02:00 (CEST) Date last edited 2021-06-29 22:24:47 +02:00 (CEST)

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