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 InternationalCreative Commons License
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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