Phenotype #0000347987

Individual ID 00460258
Associated disease hCK
Phenotype details cramps; elevated CK level 800-1200 UI/L; dystrophic features; EMG normal
Diagnosis/Initial cramps
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 0y-9y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC reduced sarcolemma immunostaining (CAV3)
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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