Global Variome shared LOVD

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Phenotype #0000346181 Individual ID 00457732 Associated disease MTPD Phenotype details see paper; ..., neuromyopathic form; recurrent rhabdomyolysis; 7y-mild periodic muscle weakness, myalgia; subacute fatigue, exercise intolerance, pain in lower limbs triggered by cold/exercise Diagnosis/Initial recurrent rhabdomyolysis Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 29y (29 years) Age/Diagnosis - 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 2024-11-16 19:15:53 +01:00 (CET) Date last edited N/A

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