Phenotype #0000085876

Individual ID 00108282
Associated disease RMD2
Phenotype details blepharoptosis, extraocular muscle paresis; CPK 729
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 37y
Age/Onset 9y
Phenotype/Onset calf muscle hypertrophy, cramps after running, rolling contraction after sudden stretching femoral muscle
Protein IHC no 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 2007-10-21 17:38:11 +02:00 (CEST)
Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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