Global Variome shared LOVD

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Phenotype #0000358076 Individual ID 00473281 Associated disease MYOP Diagnosis/Initial mitochondrial myopathy Diagnosis/Definite - Phenotype details onset of myopathy: 14-15 year old with easy fatigability; Inability to run & climb steps; Gait ataxia; Upper & lower muscle atrophy; Thenar & hypothenar muscle atrophy; Foot dorsiflexor weakness; Megaloblastic anemia since 3-month ago; Gowers sign; EMG-NCV: chronic myopathic process; Elevated LDH; Increased ferritin level. Hx of stem cells injection Inheritance Familial, autosomal recessive Age/Examination 36y (36 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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