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 International |
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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