Phenotype #0000231404

Individual ID	00305557
Associated disease	MD
Phenotype details	palpitations, faintness, weakness right calf muscle (no weakness proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 37y-ambulatory; elevated serum CK (1074-5500 IU/L); 30y-EMG myopathic; resting ECG first degree AV block, ECG normal; Holter monitoring second-degree AV block (Mobitz type 2), incomplete right bundle branch block; bicycle ergometer Mobitz type 2 second-degree AV block during recovery; 21y-muscle biopsy myopathic (left deltoid)
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2X
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	palpitations, faintness, elevated CK
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

Global Variome shared LOVD