Global Variome shared LOVD

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Phenotype #0000236380 Individual ID 00311124 Associated disease MDDG Phenotype details onset middle age, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.83; muscle weakness proximal and distal lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2615 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, glutei, adductor, rectus femoris, semimembranosus, long head of biceps femoris and soleus muscles. moderate involvement of gastrocnemius and milder involvement of semitendinosus muscles; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 61y (61 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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