Global Variome shared LOVD

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

Phenotype #0000358448 Individual ID 00473653 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details Muscle weakness, progressive, proximal to distal, lower>upper limbs; Paravertebral muscles weakness; Difficulty climbing stairs and partially wheelchair bound. Muscle biopsy shows chronic myopathic atrophy with presence of few rimmed vacuoles Inheritance Familial, autosomal recessive Age/Examination 37y (37 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.