Phenotype #0000358169

Individual ID 00473374
Associated disease MYOP
Diagnosis/Initial mitochondrial myopathy
Diagnosis/Definite -
Phenotype details progressive muscle weakness started at age 12y , pes cavus, heel walking difficulty, gait abnormality ,bilateral scapula winging, elevated CPK((974U/L) ,easy fatigability, axonal sensorimotor polyneuropathy with ,non-irritable myopathy , elevated LDH and mild size variation in muscle biopsy
Inheritance Familial, autosomal recessive
Age/Examination 25y (25 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 2026-03-06 17:24:40 +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.