Phenotype #0000343692

Individual ID 00455100
Associated disease LGMD2
Phenotype details see paper; ..., dystrophic pattern; 1st muscle weakness pelvic-femoral girdles; muscle weakness shoulder and pelvic-femoral girdles, back muscles, distal muscles; 55y-loss ambulation; contractures Achiles tendons; serum CK level 4 ukat/l; scapula alata, hyperlordosis, respiratory muscle weakness, pes cavus
Diagnosis/Initial limb-girdle muscular dystrophy
Diagnosis/Definite LGMDR1
Inheritance Familial, autosomal recessive
Age/Examination 58y (58 years)
Age/Onset 15y
Phenotype/Onset -
Age/Diagnosis -
Protein normal IHC; WB CAPN3 no 94, 60, 30 kDa, labelling on 45 kDa
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 2024-10-01 20:00:32 +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.