Objective.—We review the clinical phenotype, pathological changes, and results of
cytogenetic and molecular genetic studies in 90 probands with lissencephaly (smooth brain) …

Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and
inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons …

LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a
smooth cerebral surface and abnormal neuronal migration1, 2. Identification of the gene (s) …

Leigh disease associated with cytochrome c oxidase deficiency (LD [COX−]) is one of the
most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No …

Malformations of the cerebral cortex are an important cause of developmental disabilities
and epilepsy. Here we review those malformations for which a genetic basis has been …

It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting
with severe mental retardation and epilepsy. The main clinical features of AS may not be …

Classical lissencephaly (smooth brain) or generalized agyriapachygyria is a severe brain
malformation which results from an arrest of neuronal migration at 9–13 weeks gestation. It …

One pedigree with four patients has been recently described with mitochondrial DNA
depletion and mutation in SUCLA 2 gene leading to succinyl-CoA synthase deficiency …

Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have
been described as" contiguous gene syndromes." Short stature, chondrodysplasia punctata …

Dimerization or oligomerization of ATP synthase has been proposed to play an important
role for mitochondrial cristae formation and to be involved in regulating ATP synthase …