Global Variome shared LOVD

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

Phenotype #0000332010 Individual ID 00442663 Associated disease NMD Diagnosis/Initial Autosomal dominant limb girdle muscle weakness with kyphoscoliosis Diagnosis/Definite - Phenotype details Proximal limb-girdle weakness with kyphosis; muscle biopsy: no cores of rods; EMG: normal; MRI: fatty infiltration of several muscle groups; CK = 77 U/l Inheritance Familial, autosomal dominant Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 33y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +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.