Phenotype #0000236378

Individual ID	00311122
Associated disease	MDDG
Phenotype details	onset congenital, progressive; walks independent; dilated cardiomyopathy; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, neck, paraspinal and scapular muscle atrophy; spinal rigidity; no scapular winging; no scoliosis; serum creatine kinase 1,980-18,900 U/L; muscle biopsy myopathic, dystrophic; muscle imaging normal; EMG myopathic
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	α-DG deficiency
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-18 13:35:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD