Global Variome shared LOVD

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Phenotype #0000053387 Individual ID 00073653 Associated disease MMD Phenotype details Lower limb amyotrophy (HP:0007210), inability to walk on tip-toes (HP:0004302), Gowers sign (HP:0003391), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-15 12:59:19 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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