Phenotype #0000084218

Individual ID	00106414
Associated disease	NEM
Phenotype details	actin intranuclear rod and nemaline myopathy; diagnosed as actin myopathy, based on the cytoplasmic accumulation of thin filament aggregates. Intranuclear rods and dispersed, tiny nemaline bodies were also seen. n addition, the patient also showed supraorbital cranial sclerosis and striation of the iliac bone, which were reminiscent of the findings in osteopathia striata-cranial sclerosis. Hepatomegaly, undescended testis, right ureter-bladder constriction, and dilatation of lateral ventricles with signal change in the periventicular white matter were also noted. These may contribute to broaden the spectrum of actinopathy phenotypes.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	1y9m (1 year, 9 months)
Age/Diagnosis	-
Age/Onset	1y9m
Phenotype/Onset	birth-marked hypotonia, respiratory insufficiency
Protein	-
Owner name	Kristen Nowak
Database submission license	No license selected
Created by	Kristen Nowak
Date created	2008-10-07 21:45:26 +02:00 (CEST)
Date last edited	2012-03-09 19:12:55 +01:00 (CET)