Muscle fibrillin deficiency in Marfan's syndrome myopathy

A case of Marfans syndrome with aminoaciduria.

Muscle MRI in Bethlem myopathy.

To cite: Morrow JM, Pitceathly RDS, Quinlivan RM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013008596 DESCRIPTION A 44-year-old man presented with progressive limb girdle weakness from 10 years of age. The inheritance pattern was autosomal dominant; two siblings, his mother and maternal grandfather were similarly affected. On examination there was an...

Deficiency in APOBEC2 Leads to a Shift in Muscle Fiber Type, Diminished Body Mass, and Myopathy

The apoB RNA-editing enzyme, catalytic polypeptide-like (APOBEC) family of proteins includes APOBEC1, APOBEC3, and activation-induced deaminase, all of which are zinc-dependent cytidine deaminases active on polynucleotides and involved in RNA editing or DNA mutation. In contrast, the biochemical and physiological functions of APOBEC2, a muscle-specific member of the family, are unknown, althoug...

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Nebulin is a giant filamentous protein that is coextensive with the actin filaments of the skeletal muscle sarcomere. Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. To establish nebulin's functional roles in adult muscle, we studied a novel condition...

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

Nemaline myopathy (NM) is the most common non-dystrophic congenital myopathy. Clinically the most important feature of NM is muscle weakness; however, the mechanisms underlying this weakness are poorly understood. Here, we studied the muscular phenotype of NM patients with a well-defined nebulin mutation (NM-NEB), using a multidisciplinary approach to study thin filament length regulation and m...