Global Variome shared LOVD

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Phenotype #0000119200 Individual ID 00146460 Associated disease MEAX Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., learned to walk normally, 6y-unable to keep pace with companions running; muscle weakness progressed slowly, 52y-ambulatory without assistance, able to work (medical laboratory technician; 52y-cardiac and respiratory functions normal; raised CPK (450 IU/l;) Inheritance Familial, X-linked recessive Age/Examination 52y (52 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-12-28 18:40:25 +01:00 (CET) Date last edited N/A

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