Phenotype #0000139645

Individual ID 00174818
Associated disease LGMD
Phenotype details onset overt symptoms childhood; CPK raised 15x; slowly progressive limb-girdle weakness; myalgia; in lower limbs also distal weakness; ambulation preserved; muscle biopsy: non-specific myopathic changes , many fibers with centrally located nuclei
Diagnosis/Initial limb-girdle muscular dystrophy, AD inheritance with incomplete penetrance?
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 48y (48 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2018-08-10 19:10:48 +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.