Phenotype #0000231405

Individual ID	00305558
Associated disease	MD
Phenotype details	muscle weakness periscapular, proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs; 65y-wheel chair; elevated serum CK (1918 IU/L); 45y-EMG myopathic; resting ECG normal, ECG aortic valve stenosis; Holter monitoring nocturnal first-degree AV block; bicycle arm ergometer no increase heart rate during the test, borderline first-degree AV block; 45y-muscle biopsy myopathic (quadriceps)
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2X
Age/Examination	65y (65 years)
Age/Diagnosis	-
Age/Onset	35y
Phenotype/Onset	proximal weakness lower limbs
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