Phenotype #0000231403

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305556
Associated disease	MD
Phenotype details	exercise intolerance, no muscle weakness (proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 41y-ambulatory; elevated serum CK (1300-3661 IU/L); 28y-EMG normal; resting ECG first degree AV block, ECG normal; Holter monitoring first degree AV block
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2X
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	27y
Phenotype/Onset	exercise intolerance
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-29 18:22:20 +02:00 (CEST)
Date last edited	N/A