Global Variome shared LOVD

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

Phenotype #0000227863 Individual ID 00300556 Associated disease MD Phenotype details - Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination - Age/Diagnosis 44y Age/Onset 28y Phenotype/Onset unable to run and stand on tiptoe Protein - Owner name Rumiko Izumi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-03 09:13:58 +02:00 (CEST) Date last edited N/A

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