Phenotype #0000267849

Individual ID	00372535
Associated disease	MD
Phenotype details	onset young adult; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.84; no intellectual disability; raised CK 1.1x; myocarditis paroxysmal supraventricular tachycardia, atrioventricular block, 36y-pacemaker
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	40y (40 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-09 13:06:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD