Phenotype #0000067640

Individual ID 00088167
Associated disease Danon;GSD2B
Phenotype details limb-girdle muscle weakness, mild left ventricular diastolic dysfunction, sub-clinical neuropathy, muscle biopsy autophagic vacuolar myopathy, IHC LAMP2 smear
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2016-11-19 21:24:41 +01:00 (CET)
Date last edited N/A

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