Phenotype #0000209340

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00274397
Associated disease	MD
Phenotype details	proximal muscle weakness; muscle dystrophic pattern with loss of dysferlin immunoreactivity; elevated CK (1462 IU/L); ECG or echo normal; familial
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	53y
Age/Onset	33y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-30 09:59:36 +01:00 (CET)
Date last edited	N/A

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