Global Variome shared LOVD

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

Phenotype #0000357951 Individual ID 00473156 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details onset at age of 32y with Difficulty running & Lower limb muscle weakness; Calf muscle pseudohypertrophy; Fasciculations; Gowers sign; Hypoesthesia; Paresthesia; EMG-NCV: irritable myopathy; Elevated CPK & LDH. Above clinical information is based on HPO nomenclature. Inheritance Familial, autosomal recessive Age/Examination 40y (40 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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