Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357950 Individual ID 00473155 Associated disease MYOP Diagnosis/Initial mitochondrial myopathy Diagnosis/Definite - Phenotype details onset 18y with bilateral ptosis; External ophtalmoplegia; Poor vision; Facial muscle weakness; Mild lower & upper limbs muscle weakness; Exercise intolerance; Generalized neuropathy; Pes cavus; Hair loss & Alopecia; itchy-Rash; Elevated level of CPK; EMG: Non-irritable myopathy; Muscle biopsy compatible with mitochondrial myopathy; Positive Hx. of Lichen Planus. Inheritance Familial, autosomal recessive Age/Examination 38y (38 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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