Global Variome shared LOVD

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Phenotype #0000236363 Individual ID 00311107 Associated disease MDDG Phenotype details onset childhood, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.81; muscle weakness p roximal and distal upper limb and lower limb; proximal and distal upper limb atrophy,distal lower limb atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 2787 U/L; muscle biopsy myopathic, dystrophic; symmetric involvement in back and abdominal muscles. involvement of gluteal, vastus medius, intermedialis and lateralis, sartorius, rectus femoris, biceps femoris, semimembranosus and semitendinosus muscles. relative sparing of m.soleus and adductor longus. involvement of peroneus longus muscles, with relative sparing of tibialis anterior; EMG myopathic, dystrophic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 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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