Global Variome shared LOVD

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

Phenotype #0000242275 Individual ID 00265767 Associated disease MYOP Phenotype details delayed motor milestones, 2y-walk; slowly progressive proximal weakness; CK 220 (U/L); EMG myopathic; 26y-biopsy deltoid, large, irregular areas of oxidative defects and myofibrillar disorganization; evidence of fuschinophilic inclusions on trichrome stain; type 1 fiber predominance; EM cytoplasmic bodies and granulo-filamentous aggregates; 26y-FVC 0.60; 26y-ECG normal; dysphagia Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 27y (27 years) 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 2020-11-24 17:44:15 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.