Global Variome shared LOVD

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Phenotype #0000332041 Individual ID 00442694 Associated disease NMD Diagnosis/Initial congenital myasthenic syndrome Diagnosis/Definite CMYP3 Phenotype details congenital myopathy with mild facial weakness and respiratory insufficiency at birth, hypotonia; muscle biopsy: basophilic fibers, cores, minicores and droplets; CK = 85 U/l, reduced mitochondrial energy production capacity Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 00y00m01d 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 2023-11-23 21:17:31 +01:00 (CET)

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