Phenotype #0000353084

Individual ID 00467932
Associated disease LGMD
Phenotype details see paper; ...,; serum CK level 1905 IU/L; no loss Independent walking; cardiac involvement; calf muscle hypertrophy; scapular winging; contractures; no myalgia; scoliosis; hyperlordosis; Proximal lower limb weakness; Proband has an affected brother (genetic testing has not been carried out)
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset -
Protein IHC SGCG decreased in 0.60 muscle fibers
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-11-03 21:05:11 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.