Global Variome shared LOVD

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Phenotype #0000058501 Individual ID 00078742 Associated disease MMD3 Phenotype details iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 12290; >50y walking (-HP:0006957) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset 25y 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 18:53:57 +01:00 (CET)

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