The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital
malformation syndromes. The recent discovery of the biochemical cause of SLOS and the …

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked
genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay …

Background Previous reports indicate an association between autism spectrum disorders
(ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that …

Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD)
are congenital muscular dystrophies with associated, similar brain malformations,. The …

Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial
roles in cardiac development and disease. Here, we combined patient-derived and …

A large MERRF pedigree permitted the direct testing of the predictions for a mitochondrial
DNA (mtDNA) mutation. A mtDNA mutation was demonstrated by proving maternal …

Abstract Smith–Lemli–Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are
human syndromes caused by defects in the final stages of cholesterol biosynthesis. Many of …

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital
anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor …

The nemaline myopathies are characterized by weakness and eosinophilic, rodlike
(nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline …

Objective. To evaluate an approach to the diagnosis and treatment of maple syrup disease
(MSD). Methods. Family histories and molecular testing for the Y393N mutation of the E1α …