Global Variome shared LOVD

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Phenotype #0000052971 Individual ID 00073296 Associated disease MMD Phenotype details Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 19y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-10 12:36:36 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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