Phenotype #0000058541

Individual ID 00078782
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details anoctaminopathy, exercize intolerance, late-onset proximal leg weaknes, recurrent rhabdomyolysis; muscle biopsy amyloid deposits blood vessel walls/around muscle fibers; childhood onset; raised CPK (HP:0003236) 444-22000; >53y walking (-HP:0006957)
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset exercise-induced myalgia, fatigue, hammer toes
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Tom Winder
Database submission license No license selected
Created by Tom Winder
Date created 2011-09-02 20:44:22 +02:00 (CEST)
Date last edited 2011-10-30 10:40:52 +01:00 (CET)

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.