Global Variome shared LOVD

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

Phenotype #0000357075 Individual ID 00472265 Associated disease ? Diagnosis/Initial Distal myopathy Diagnosis/Definite - Phenotype details 0012548: Fatty infiltration in skeletal muscle, 0009054: Scapulopelvic myopathy, 0003458: EMG: myopathic abnormalities, 0100304: Intranuclear inclusion bodies in muscle fibre, 0012084: Abnormal skeletal muscle fibre size, 0011807: Type 1 muscle fibre atrophy, 0031237: Internally nucleated skeletal muscle fibres Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-20 16:05:40 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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