Global Variome shared LOVD

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Phenotype #0000236362 Individual ID 00311106 Associated disease MDDG Phenotype details onset childhood, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; proximal upper limb, neck and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 390 U/L; muscle biopsy glycogen accumulation, abnormal mitochondria; involvement of hamstring muscles; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - 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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