Global Variome shared LOVD

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Phenotype #0000358170 Individual ID 00473375 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset 8y, Muscle weakness; Difficulty climbing steps; Difficulty heel walking; Fatigable weakness following short walking; Elevated LDH levels; EMG-NCV: suggestive of motor neuron disease; Muscle biopsy: muscular dystrophy with excess lobulated fibers and secondary neurogenic changes Inheritance Familial, autosomal dominant Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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