Global Variome shared LOVD

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Phenotype #0000058628 Individual ID 00078869 Associated disease LGMD Phenotype details four limbs affected, atrophy asymmetric quadriceps, muscle weakness quadriceps, no calf pseudo hypertrophy, cramps, myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopathic; raised CPK (HP:0003236) 2x; >50y walking (-HP:0006957) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 47y Phenotype/Onset myalgias,hyposthenia 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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