Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported.  Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness.  Recessive abnormal trait probably due to new mutation was the c...

We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker's disease), has earlier been reported from India.

pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...

Hypertrophic neuropathy in a family of inbred Tibetan Mastiff dogs is shown to be due to an autosomal recessive gene. The disease has an onset at 7 to 12 weeks of age and results in varying degrees of paresis. HEREDITARY hypertrophic neuropathies have been described in humans and in mice. In humans these include the autosomal dominant Charcot-Marie-Tooth disease with onset in the first or secon...

A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was ...