Phenotype #0000239612

Individual ID	00315867
Associated disease	MD
Phenotype details	see paper; ..., 7y-first elevated CK (HP:0003236), 8,500-12,600; proximal weakness (HP:0003701); no axial weakness (-HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MYPLG
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	07y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-29 16:12:56 +01:00 (CET)
Date last edited	2023-06-02 11:42:17 +02:00 (CEST)

Global Variome shared LOVD