Global Variome shared LOVD

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Phenotype #0000332021 Individual ID 00442674 Associated disease NMD Diagnosis/Initial Myopathy with respiratory symptoms Diagnosis/Definite - Phenotype details deceased; severe hypotonia (most pronounces axial and proximal) with minimal facial expression and respiratory failure; muscle biopsy: increase in fiber size variation and presence of internal nuclei; EMG: myopathic changes with myotonic discharges; CK = 64 U/l Inheritance Familial, autosomal recessive Age/Examination 7m Age/Diagnosis - Age/Onset 1m 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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