Clinical and laboratory data in reported cases of congenital cytoplasmic body myopathy

Table 1: Clinical and laboratory data in reported cases of congenital cytoplasmic body myopathy.

Authors (year)	Ref. #	Heredity	Sex	Age 1) At onset 2) At examination	Initial symptoms	serum CK	ECG	EMG	Cardiorespiratory failure	Clinial course
Goebel (1981)	3	-	F	1) Day 1 2) 15 y	Feeding difficulties, vomiting, dysphagia	inc	N	myo	-	Benign
Wolburg (1982) case 1 case 2	4	- -	M F	1) Infancy 2) 32 y 1) Infancy 2) 32 y	Muscle weakness Muscle weakness	inc N	NR abn	mixed mixed	- +	Benign Benign
Mizuno (1989)	2	-	F	1) Infancy 2) 3 months	Floppy, respiratory distress	inc	N	myo	+	Bed-ridden
Bertini (1990)	5	?	M	1) At birth 2) 10 months	Dysphagia	N	N	myo	+	Dead (14 months)
Sekijima (1995)	6	-	M	1) At birth 2) 17 y (at autopsy)	Hypotonia	inc	abn	neuro	+	Dead (17 y)
Reed (1997)	7	AD?	M	1) Early life 2) 23 y	Hearing loss	N	NR	N	+	NR
Present case		-	M	1) At birth 2) 4 months	Hydrops, hypotonia, respiratory distress	N	N	undone	+	Dead (2.5 y)

M: male, F: female, AD: autosomal dominant, inc: increased, N: normal, abn: abnormal, NR: not recorded, ECG: electrocardiography, EMG: electromyography, myo: myogenic, neuro: neurogenic.