Global Variome shared LOVD

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

Phenotype #0000358255 Individual ID 00473460 Associated disease MD Phenotype details onset 37y, Difficulty walking & rising from seated position; Proximal muscle weakness, lower > upper limbs; Gowers sign; EMG: chronic irritable myopathy; Increased CPK & Aldolase; Thigh MRI showed severe atrophy and fat deposition Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 42y (42 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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