Phenotype #0000347959

Individual ID 00460230
Associated disease hCK
Phenotype details exercise intolerance; elevated CK level 1300-3500 UI/L; vacuoles, glycogen storage; MRI muscle focal fat replacement leg compartment
Diagnosis/Initial exercise intolerance
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 0y-9y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC normal sarcolemma immunostaining
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 2025-01-22 12:23:09 +01:00 (CET)
Date last edited N/A

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