Phenotype #0000236368

Individual ID	00311112
Associated disease	MDDG
Phenotype details	onset young adult, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; few white matter lesions; no intellectual disability; forced vital capacity 0.34; muscle weakness proximal upper limb and lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3500 U/L; muscle biopsy myopathic; EMG myopathic
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	47y (47 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