Phenotype #0000267859

Individual ID	00372545
Associated disease	MD
Phenotype details	proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.4x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	26y (26 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