Phenotype #0000282139

Individual ID	00388599
Associated disease	MYOP
Phenotype details	proximal muscle weakness; CK level 855 IU/L; Soleus and Medial Gastrocnemius muscle MRI showing fatty replacement and atrophy; toe walking, difficulty climbing stairs and getting up from ground, winging of scapula and tendo-achilis contractures; most affected muscles: Serratus anterior, hip adductors, iliopsoas, hamstrings, and tibialis anterior
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-04 20:51:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD