Phenotype #0000282192

Individual ID 00388652
Associated disease MYOP
Phenotype details distal muscle weakness, proximal muscle weakness; CK level 304 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset 23y
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 2021-11-04 20:51:09 +01:00 (CET)
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.