Global Variome shared LOVD

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Phenotype #0000236360 Individual ID 00311104 Associated disease MDDG Phenotype details onset juvenile, 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 (lower limb more prominent), mild neck; mild pseudohypertrophy of gastrocnemius, mild atrophy of biceps brachii and vastus lateralis; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4109 U/L; muscle biopsy dystrophic, internal nuclei; sartorius, gracilis and semitendinosus relatively preserved. involvement of other thigh muscles; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein no indications 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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