Phenotype #0000052801

Individual ID 00073110
Associated disease SCPNK
Phenotype details Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551)
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-07 11:30:05 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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.