Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 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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