Phenotype #0000270396

Individual ID 00375186
Associated disease MEOAL;MMDS8
Phenotype details see paper; ..., mitochondrial myopathy, ataxia, muscle weakness; short stature (150 cm); no seizure; adiadochokinesia; ophthalmology normal; normal CK; muscle biopsy myopathic; frontal atrophy, enlarged interhemispheric fissure
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite MMYAT
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset 38y
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 2021-05-28 19:50:28 +02:00 (CEST)
Date last edited 2021-05-28 23:59:58 +02:00 (CEST)

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