Phenotype #0000311172

Individual ID 00419903
Associated disease MYOP
Phenotype details congenital; MRC muscle strength neck neck flexors 3-, neck extensors 3-; MRC muscle strength upper limbs proximal muscles 3+, distal 4-; MRC muscle strength lower limbs proximal 3-, distal 3+; no facial weakness; no calf pseudohypertrophy; scoliosis; contractures; forced vital capacity normal; no sleep apnoea; no cognitive impairment; no cardiac involvement; EMG myopathic; normal CK level
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
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 2022-10-24 22:26:15 +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.