Phenotype #0000222789

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00289158
Associated disease	BMD/DMD
Diagnosis/Initial	BMD/DMD
Diagnosis/Definite	BMD
Phenotype details	no symptoms at diagnosis, elevated CK level, quadriceps hypotrophy and calf hypertrophy; ventricle dilation/m2 71, EF 0.633; no respiratory involvement; elevated CK7.9x
Inheritance	Unknown
Age/Examination	49y3m (49 years, 3 months)
Age/Diagnosis	49y3m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-01 17:33:28 +01:00 (CET)
Date last edited	N/A

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