Global Variome shared LOVD

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Phenotype #0000236378 Individual ID 00311122 Associated disease MDDG Phenotype details onset congenital, progressive; walks independent; dilated cardiomyopathy; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, neck, paraspinal and scapular muscle atrophy; spinal rigidity; no scapular winging; no scoliosis; serum creatine kinase 1,980-18,900 U/L; muscle biopsy myopathic, dystrophic; muscle imaging normal; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 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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