Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058625 Individual ID 00078866 Associated disease LGMD Phenotype details almost asymptomatic, lower lower limbs, atrophy harmstrings/quadriceps, muscle weakness biceps femorii; calf pseudo hypertrophy, no cramps, no myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 15-31x; >43y walking (-HP:0006957) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 33y Phenotype/Onset hyperCKemia, asymptomatic 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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