Global Variome shared LOVD

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

Phenotype #0000358353 Individual ID 00473558 Associated disease MD Phenotype details Difficulty walking, climbing steps, running & rising from seated position since 17-18 y/o; Neck muscle weakness; Muscle weakness, proximal and distal, legs and arms; Quadriplegic; Wheelchair-bound from 10y; Respiratory difficulty; EMG-NCV: compatible with severe chronic myopathic process; Metabolic test: no indication of Pompe disease Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 41y (41 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.