Phenotype #0000236369

Individual ID	00311113
Associated disease	MDDG
Phenotype details	onset childhood, non-progressive; walks independent; left ventricular enlargement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2,553-6,800 U/L; muscle biopsy myopathic; minimal high-signal changes in the right shoulder and left pelvic and thigh regions; EMG normal
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11y (11 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