Background Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and ...

Background: Sporadic Alzheimer’s disease (AD) is a common disabling disease of complex aetiology for which there are limited therapeutic options. We sought to investigate the role of the α7 nicotinic ...

Background: Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive pleiotropic disorder caused by mutations in SMARCAL1 . SMARCAL1 encodes an enzyme with homology to the SNF2 chromatin ...

Maternal uniparental disomy of chromosome 7 (matUPD (7)), the inheritance of both copies of chromosome 7 exclusively from the mother, occurs in approximately 10% of Silver-Russell syndrome (SRS) ...

Dermatoglyphics of patients suffering from diabetes, schizophrenia, duodenal ulcer, asthma, and various cancers have been contrasted and significant differences in the digital ridge counts, maximum ...

Objectives Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNAGlu mutations have recently been identified in reversible infantile cytochrome c oxidase deficiency (or ‘benign COX ...

Background: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the more common mitochondrial encephalomyopathies. About 80% of MELAS cases are caused by ...

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects ...