Global Variome shared LOVD

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

Phenotype #0000358209 Individual ID 00473414 Associated disease LGMD Phenotype details sporadic case, tiptoe walking at age 2y , normal motor development, proximal lower and upper muscle weakness, positive Gower`s sign, remarkable elevated CPK, irritable myopathy reported in EMG, muscular dystrophy reported in muscle biopsy and normal IHC for all examined antibodies Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 15y (15 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.