Global Variome shared LOVD

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

Phenotype #0000299788 Individual ID 00407641 Associated disease NM;IBM2 Phenotype details asymetric weakness of foot dorsiflexors and hamstring, unilateral interossei and wrist extensors/flexors, atrophy of weak muscles; raised CK (900U/L); MRI fatty change in the tibialis anterior, medial gastrocnemius and semitendinosus muscles; STIR hyperintensity of tibialis anterior; diffuse limb fasciculations after 6m, progression of weakness after 1 y Diagnosis/Initial motor axonal neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite NM Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 33y 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 2022-04-07 14:29:38 +02:00 (CEST) Date last edited 2022-04-07 14:32:32 +02:00 (CEST)

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