Phenotype #0000236381

Individual ID 00311125
Associated disease MDDG
Phenotype details onset young adult, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.56; muscle weakness proximal upper limb and lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 3120 U/L; muscle biopsy dystrophic; severe involvement of hip adductors, hamstring muscles and rectus femoris; EMG myopathic
Diagnosis/Initial dystroglycanopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 32y (32 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-18 13:35:42 +02:00 (CEST)
Date last edited N/A

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