Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000317236 Individual ID 00426072 Associated disease OPDM Diagnosis/Initial oculopharyngodistal myopathy Diagnosis/Definite OPDM4 Phenotype details ptosis; restricted eye movement, external ophthalmoplegia; dysphagia; dysarthria (nasal voice); facial palsy or atrophy; proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; no DWI hyperintensity signal; raised creatine kinase level 758 U/L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions Inheritance Familial, autosomal dominant Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset ptosis Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-27 16:21:07 +01:00 (CET) Date last edited N/A

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