Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS …

Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This statement …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy
number variants (CNVs) in this region have recently been reported in association with …

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group is …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

Objectives. The aim of this study was to elucidate the frequency of major clinical manifestations
in children with mitochondrial disease and establish their clinical course, prognosis, and …

… F: Dot plots displaying normalized MLPA results for the patient and mother, demonstrating
that this copy-number loss was not maternally inherited. The father declined to be tested. …

GM 1 gangliosidosis is a lysosomal storage disorder due to deficiency of the β-galactosidase
enzyme. This deficiency results in accumulation of GM 1 gangliosides and related …