Global Variome shared LOVD

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Phenotype #0000058624 Individual ID 00078865 Associated disease LGMD Phenotype details distal involvement, atrophy harmstrings/quadriceps, muscle weakness quadriceps/biceps femorii; calf pseudo hypertrophy, cramps, myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 5-32x; >51y walking (-HP:0006957) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 15y Phenotype/Onset mild weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-11-16 15:05:13 +01:00 (CET) Date last edited N/A

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