Phenotype #0000242282

Individual ID 00320231
Associated disease MYOP
Phenotype details congenital hypotonia, knee contractures, feeding and respiratory difficulties; axial weakness; moderate generalized atrophy; CK normal; EMG myopathic; 10y-biopsy vastus lateralis, type 1 fiber predominance, occasional internalized nuclei; occasional fibers with areas devoid of oxidative staining; 13y-FVC 0.99; aortic coarctation and VSD s/p surgery; mild ophthalmoplegia, joint hypermobility, premature adrenarche
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 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 18:50:45 +01:00 (CET)
Date last edited 2020-11-24 18:57:44 +01:00 (CET)

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