Global Variome shared LOVD

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Phenotype #0000162026 Individual ID 00213572 Associated disease MYOP Phenotype details somewhat delayed motor milestones; 5y-mild motor difficulties, could not keep up with peers, could not run; 18y-muscle biopsy diagnosis congenital myopathy, nemaline rods not identified, EMG myopathic pattern; 21y-hospitalised with pneumonia, tracheostomized, mechanical ventilation initiated, kyphoscoliosis, hypotonia, generalized muscle atrophy, mild muscle weakness, able to sit, walk unsupported, elongated face, high-arched palate, no cardiac involvement; 38y-dependent on mechanical ventilation night; walk, not run; wheelchair bound >38y Diagnosis/Initial myopathy, congenital (cap disease) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2012-03-18 14:27:26 +01:00 (CET) Date last edited 2012-03-18 14:29:08 +01:00 (CET)

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