Phenotype #0000044580

Individual ID 00057949
Associated disease LGMDR10;LGMD2J
Phenotype details severe TMD; IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
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 2006-02-10 13:10:35 +01:00 (CET)
Date last edited 2012-11-02 20:43:06 +01:00 (CET)

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