Global Variome shared LOVD

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

Phenotype #0000125423 Individual ID 00102725 Associated disease MD Phenotype details running difficulties since his thirties, progressive lower limb weakness. • Brain MRI: white matter changes. • Noticed upper limb weakness 10yrs later. • Paresis (4/5 grade) proximal in upper limbs, distal and proximal in lower limbs. • Paresis of trunk and neck flexion (grade 2 and 4+, respectively). • Lordosis and myopathic gait with slight steppage. Diagnosis/Initial dystrophy, muscular Inheritance Familial Diagnosis/Definite - Age/Examination 49y (49 years) Age/Diagnosis - Age/Onset 30y? Phenotype/Onset Running difficulties Protein IHC no LAMA2 changes Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-01 18:08:41 +02:00 (CEST) Date last edited 2017-04-01 18:13:43 +02:00 (CEST)

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