Global Variome shared LOVD

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Phenotype #0000058504 Individual ID 00078745 Associated disease MMD3 Phenotype details iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4800; >53y walking (-HP:0006957) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset 39y 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 2010-02-14 22:37:07 +01:00 (CET) Date last edited 2011-03-18 17:14:57 +01:00 (CET)

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