Global Variome shared LOVD

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Phenotype #0000242281 Individual ID 00320230 Associated disease MYOP Phenotype details congenital hypotonia, weak cry, feeding difficulties; delayed motor milestones; 3y-walk; proximal weakness; CK 35 U/L; 5y-biopsy vastus lateralis, variation in fiber size with increased number of internalized nuclei; evidence of fuschinophilic inclusions on trichrome stain; large, irregular areas of oxidative defects and myofibrillar disorganization; 5y-ECG normal; ankle contractures and prominent calcaneus Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 06y (6 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 2020-11-24 18:50:34 +01:00 (CET) Date last edited 2020-11-24 18:53:25 +01:00 (CET)

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