Global Variome shared LOVD

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Phenotype #0000331987 Individual ID 00442640 Associated disease NMD Diagnosis/Initial Congenital myopathy Diagnosis/Definite - Phenotype details Weakness: lower limb > upper limbs; proximal > distal; axial weakness, scoliosis; muscle biopsy: increase in fiber size variation, proliferation of endomysial and perimysial connective tissues, limited immunostaining for merosin and dystrophin 1,2,3 positive Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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