Phenotype #0000231411

Individual ID 00305564
Associated disease LGMD
Phenotype details hyperCKemia with mild muscle weakness; difficulties in running; elevated serum CK (10,300 IU/L); running with difficulties; proximal muscle weakness; calf hypertrophy; no tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2D
Age/Examination 9y2m (9 years, 2 months)
Age/Diagnosis -
Age/Onset 5y
Phenotype/Onset difficulties in running
Protein IHC SGCA absent, SGCB absent, SGCG reduced
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 2020-06-30 17:17:40 +02:00 (CEST)
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.