Global Variome shared LOVD

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Phenotype #0000242274 Individual ID 00265765 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details 6y-proximal muscle weakness; slowly progressive axial and proximal weakness; calf hypertrophy; CK level normal range; EMG mildly neurogenic; 18y-biopsy vastus lateralis moderate variation in fiber size with rounded and elongated atrophic fibers and numerous internalized nuclei; areas devoid of oxidative staining, suggestive of cores; uniform type 1 fiber predominance; EM large areas of disorganization and some diffusion of the Z-line material; 18y-FVC 0.62; 18y-ECG normal; dysphagia, fatigue; 3m-deceased brother with history of nystagmus, vomiting suspected mitochondrial disorder unknown genetic etiology Inheritance Familial, autosomal recessive Age/Examination 18y (18 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 17:35:04 +01:00 (CET) Date last edited 2020-11-24 17:39:14 +01:00 (CET)

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