Global Variome shared LOVD

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Phenotype #0000236356 Individual ID 00311100 Associated disease MDDG Phenotype details onset juvenile, slowly progressive; walks independent; left ventricular ejection fraction 50%; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.73; muscle weakness proximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 673 U/L; muscle biopsy myopathic; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 34y (34 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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