Phenotype #0000342093

Individual ID 00453430
Associated disease LGMDR2;LGMD2B
Phenotype details Exercise-induced myalgia (HP:0003738)
Increased muscle fatiguability (HP:0003750)
Unilateral ptosis (HP:0007687)
Elevated circulating creatine kinase concentration (HP:0003236)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 52y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2024-08-26 12:59:18 +02:00 (CEST)
Date last edited 2024-09-25 12:03:23 +02:00 (CEST)

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