Myology research highlights

The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here, the authors describe a patient presenting an early-onset congenital myopathy associated with a combination of well-separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed … [Read more]

Multinational pharmaceutical company Eli Lilly is conducting a phase 3 trial of the drug tadalafil (Cialis), which may help regulate blood flow to muscles, in approximately 300 boys with Duchenne muscular dystrophy (DMD) who are 7-14 years old, able to walk, have adequate cardiac function and meet other study criteria. The rationale for using tadalafil … [Read more]

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility … [Read more]

Human pluripotent stem cells (hPSCs) constitute a promising resource for use in cell-based therapies and a valuable in vitro model for studying early human development and disease. Despite significant advancements in the derivation of specific fates from hPSCs, the generation of skeletal muscle remains challenging and is mostly dependent on transgene expression. Here, the authors … [Read more]

Genzyme and the National Organization for Rare Disorders (NORD) announced the creation of a fund to pay for standard diagnostic testing for people with rare, undiagnosed medical conditions. The fund will help those who have applied to the NIH Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible … [Read more]

Most evidence supporting the benefit of thymectomy in juvenile myasthenia gravis (JMG) is extrapolated from adult studies, with only little data concerning paediatric populations. Here, the authors evaluate the outcome of children with generalized JMG who underwent thymectomy between 1996 and 2010 at 2 tertiary paediatric neurology referral centres in the United Kingdom. Twenty patients … [Read more]

A variable proportion of patients with generalized myasthenia gravis (MG) have autoantibodies to muscle specific tyrosine kinase (MuSK). During development, agrin, released from the motor nerve, interacts with low density lipoprotein receptor-related protein-4 (LRP4), which then binds to MuSK; MuSK interaction with the intracellular protein Dok7 results in clustering of the acetylcholine receptors (AChRs) on … [Read more]

 Recent studies show that patients with myotonic dystrophy (DM) have an increased risk of specific malignancies, but estimates of absolute cancer risk accounting for competing events are lacking. Using the Swedish Patient Registry, the authors identified 1,081 patients with an inpatient and/or outpatient diagnosis of DM between 1987 and 2007. Date and cause of death … [Read more]

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. … [Read more]

This report examined demographic and clinical data collected during a randomised controlled trial, to describe the clinical spectrum of a large and well-defined cohort of Charcot–Marie–Tooth disease type 1A (CMT1A) patients. Among the 189 symptomatic patients screened, three patients (1.6%) reported first symptoms in the upper limbs, which may be misleading when establishing the clinical … [Read more]