Global Variome shared LOVD

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Phenotype #0000058623 Individual ID 00078864 Associated disease LGMD Phenotype details lower limbs affected; atrophy quadriceps, posterior compartment; muscle weakness quadriceps/biceps femorii; no calf pseudo hypertrophy, no cramps, no myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 6-11x; >47y walking (-HP:0006957) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 39y Phenotype/Onset myoglobinuria 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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