Global Variome shared LOVD

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

Phenotype #0000332013 Individual ID 00442666 Associated disease NMD Diagnosis/Initial Myalgia, muscular dystrophy, limb girdle muscle weakness Diagnosis/Definite - Phenotype details Lower motor neuron distribution symptoms with muscle pain and fasciculations, in combination with neck flexor and extensor weakness; EMG: signs of denervation and severe myopathic changes Inheritance Familial, autosomal recessive Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset 23y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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