Global Variome shared LOVD

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Phenotype #0000239608 Individual ID 00315863 Associated disease MD Phenotype details see paper; ..., 10y-first elevated CK (HP:0003236); proximal weakness (HP:0003701); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); no loss of ambulation (-HP:0002505); no cardiac abnormalities (-HP:0001627) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MYPLG Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-29 16:12:56 +01:00 (CET) Date last edited 2023-06-02 11:41:03 +02:00 (CEST)

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