Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000052979 Individual ID 00073304 Associated disease MMD Phenotype details Elevated serum creatine phosphokinase (HP:0003236), Lower limb amyotrophy (HP:0007210), Myopathy (HP:0003198), Difficulty walking (HP:0002355), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 43y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-10 14:37:00 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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