Global Variome shared LOVD

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

Phenotype #0000332014 Individual ID 00442667 Associated disease NMD Diagnosis/Initial Distal myopathy; possible Miyoshi myopathy Diagnosis/Definite - Phenotype details Miyoshi myopathy; severe fatty infiltration of muscles of shoulder girdle, axial, hip girdle and upper and lower leg muscles Inheritance Familial, autosomal recessive Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset - 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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