Global Variome shared LOVD

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Phenotype #0000236374 Individual ID 00311118 Associated disease MDDG Phenotype details onset childhood, slowly progressive; walks independent; no eye anomalies; no brain abnormalities; mild mental retardation; muscle weakness p roximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 5086 U/L; muscle biopsy myopathic, dystrophic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; relative sparing and hypertrophic appearance of lower leg muscles; Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein reduced α-DG glycosylation Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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