Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …

Eukaryotic cells have been confronted throughout their evolution with potentially lethal plasma
membrane injuries, including those caused by osmotic stress, by infection from bacterial …

Two groups of primiparous mothers and their infants were observed at home during play
and at a mealtime when the infants were 12–14 months old. The index group consisted of …

Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which
the underlying genetic defect is often unknown. We have identified a pathogenic mutation (c.…

Importance To our knowledge, the efficacy of transferring next-generation sequencing from a
research setting to neuromuscular clinics has never been evaluated. Objective To translate …

Ferlins are a family of multiple C 2 domain proteins with emerging roles in vesicle fusion
and membrane trafficking. Ferlin mutations are associated with muscular dystrophy (dysferlin) …

Under conditions of nutrient stress, cells switch to a survival mode catabolizing cellular and
tissue constituents for energy. Proline metabolism is especially important in nutrient stress …

The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy
of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether …

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized
by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. …

BackgroundChildren of mothers with eating disorders are at increased risk of developmental
disturbance, but there has been little research in middle childhood, when disturbed eating …