Phenotype #0000052802

Individual ID	00073112
Associated disease	SCPNK
Phenotype details	Proximal muscle weakness in lower limbs (HP:0008994), Limb-girdle muscular dystrophy (HP:0006785), Arrhythmia (HP:0011675), Respiratory insufficiency (HP:0002093), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy (HP:0003198)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	Proximal muscle weakness in lower limbs (HP:0008994)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-07 11:47:52 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

Global Variome shared LOVD