Phenotype #0000242276

Individual ID 00265768
Associated disease MYOP
Phenotype details delayed motor milestones, 2y-walk; slowly progressive proximal weakness; calf hypertrophy; CK level 137 U/L (normal range); EMG myopathic; 31y-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; 31y-FVC 0.81; 31y-ECG tachycardia; dysphagia
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 31y (31 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-24 17:49:48 +01:00 (CET)
Date last edited N/A

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