Phenotype #0000231415

Individual ID	00305568
Associated disease	LGMD
Phenotype details	hyperCKemia without muscle weakness; post-exercise muscle pain; elevated serum CK (1770 IU/L); asymptomatic hyperCKemia with or without exercise-induced myalgia; no muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; muscle pain; muscle biopsy mild myopathic changes
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2D
Age/Examination	13y6m (13 years, 6 months)
Age/Diagnosis	-
Age/Onset	10y6m
Phenotype/Onset	post-exercise muscle pain
Protein	IHC SGCA slightly reduced, SGCB normal, SGCG normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-30 17:17:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD