Table 1. Clinical features of 11 family members affected by autosomal dominant visceral myopathy.

	Individuals
	II:1	II:2	II:4	II:7	II:8	III:2	III:4	III:8	III:9	IV:2	IV:4
Genotype	NI	NI	Wt/mut	NI	NI	Wt/mut	Wt/mut	Wt/mut	Wt/mut	Wt/mut	Wt/mut
Age (years)	Died, 18a	Died, 38a	73	Died, 57	Died, 46	53	49	46	41	19	12
Sex	M	M	M	M	F	F	M	M	F	F	F
Age of onsetb	Childhood	Childhood	14 Years	Youth	16 Years	9 Years	1 Month	7 Months	1.5 Years	<1 Year	<1 Year
Initial symptoms	Obstipation	Obstipation	Obstipation	Obstipation	Obstipation	Cholelithiasis	Urinary retention	Obstipation	Obstipation	Obstipation	Obstipation
Intestines
Obstruction	+	+	+	+	+	+	+	+	+	+	+
Diarrhea			+		+	+	+	+	+	+	+
Malformation			+		+	+	+	+	+	+
Impaired peristalsis			+		+	+	+	+	+	+
Intestinal surgery			+			+	+	+	+
Urinary tract
Bladder enlarged			+		+	+	+	+	+	+	+
Residual urine			+			+	+	+		+	+
Recurrent infections			+			+		+		+
Kidney stones			+			+
Biliary tract
Cholecystitis			+			+	+
Cholelithiasis			+			+
Uterus
Labor progress slow					+	+			+
Weak contractions					+	+			+
Assisted deliveries					+	+			+

Abbreviations: +, present; F, female; M, male; mut, mutated; NI, not investigated; wt, wild type.

^aDeceased from gastrointestinal obstruction, anamnestic information.

^bAge at first contact with health care because of overt visceral symptoms.