… Now the individual diseases will be described in detail and a table with numerical data will
be given in Part III of this review (Norio 2002b). In this Part I, the names of the diseases are …

This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …

In the second part of my review of the Finnish Disease Heritage (FDH), I discuss the settling
of Finland; factors influencing the genes of a population, such as agriculture versus hunting/…

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal
recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The …

Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based
on the clinical picture of nonprogressive psychomotor retardation and microcephaly, …

This article elucidates the clinical picture in Cohen syndrome (MIM 216550), an autosomal
recessive disorder that is overrepresented in Finland. The diagnosis is based on the typical …

Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac
and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We …

Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an
autosomal recessive disorder that occurs with a low frequency in many populations but is more …

The clinical picture and the progression of the disease in 93 cases of progressive myoclonus
epilepsy in Finland were analysed. The disease was familial in 25 out of 67 families. The …

… The ophthalmological features are described in detail elsewhere (Raitta & Norio, in
preparation). Four patients had markedly slow pupillary reaction to light, apparently secondary to …