Global Variome shared LOVD

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

Phenotype #0000332025 Individual ID 00442678 Associated disease NMD Diagnosis/Initial Severe congenital limb girdle muscular dystrophy Diagnosis/Definite - Phenotype details Axial and proximal weakness in combination with distal amyotrophy and wining of scapula; muscle biopsy: increase in fiber size variation and presence of internal nuclei. Endomysial fibrosis and presence of adipocytes with signs of necrosis and regeneration; CK = 5374 U/l (at birth), 4190 U/l (1 year) Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 1d 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.