Phenotype #0000236355

Individual ID	00311099
Associated disease	MDDG
Phenotype details	onset middle age, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal lower limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4310 U/L; muscle biopsy myopathic, dystrophic; involvement of gluteus maximus, adductor magnus, obturatorius externeus, hamstring, adductor, rectus femoris, tibialis anterior and gastrocnemius externus muscles; EMG myopathic
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	58y (58 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