Global Variome shared LOVD

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Phenotype #0000358119 Individual ID 00473324 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details Sporadic case, started 15y earlier with upper muscle weakness, muscle cramps and neck muscle weakness, scapula winging, normal CPK, motor neuron disease reported in EMG/NCV. Inheritance Familial, autosomal dominant Age/Examination 55y (55 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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