Phenotype #0000035735

Individual ID 00049022
Associated disease VMCQA
Phenotype details see paper; myopathy, weakness, fatigue, large vacuoles with inclusions of aggregatied sarcoplasmic reticulum proteins, mild myalgia, cramps, ...
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
CK-level 5x
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 2015-09-04 22:40:23 +02:00 (CEST)
Date last edited 2015-09-04 22:47:26 +02:00 (CEST)

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