Myology research highlights
RSS feedWelander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
This study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy. The genetic linkage was confirmed and defined by microsatellite and single nucleotide polymorphism haplotyping. The whole linked genomic region was sequenced with targeted high-throughput and Sanger sequencing, and coding transcripts were sequenced on the cDNA … [Read more]
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. In this study, researchers analysed 66 patients assessed at a single centre over a 5-year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (Central Core Disease, Multi-minicore Disease), … [Read more]
Failure of the regenerative response in pharyngeal muscles of OPMD patients
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant inherited dystrophy caused by an abnormal trinucleotide repeat expansion in the poly(A)-binding-protein-nuclear 1 (PABPN1) gene. Primary muscular targets of OPMD are the eyelid elevator and pharyngeal muscles, including the cricopharyngeal muscle (CPM), the progressive involution of which leads to ptosis and dysphagia, respectively. In this Franco-Italian … [Read more]
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?
In this study, the authors aimed to review current approaches for obtaining patient data in Duchenne muscular dystrophy (DMD) and consider how monitoring and comparing outcome measures across DMD clinics could facilitate standardized and improved patient care. They reviewed annual standardized data from cystic fibrosis (CF) clinics and DMD care guidelines and consensus statements; compared … [Read more]
New call for ENCM workshop applications
This call is for applications to organise an international collaborative scientific workshop on a topic relevant for persons with a neuromuscular disorder. The deadline for sending in applications for ENMC workshops to be conducted in the second half of 2013, is March 1st, 2013. Please be informed that incomplete applications and applications submitted after the … [Read more]
FSHD Global Research Foundation call for expressions of interest
The FSHD Global Research Foundation (FSHDGRF) is calling for expressions of interest relating to either a development candidate that could move into IND-enabling preclinical development or a preclinical proof of concept for a potential development candidate. This call for research project applications is for global collaborative projects leading to Pre-IND applications. These projects are intended … [Read more]
Rare Disease Day 2013
February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 24 European countries. On and around this day hundreds of patient organisations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”. Activities will … [Read more]
LGMD2A global patient registry seeks participants
A recently opened global registry is seeking people with the type 2A form of limb-girdle muscular dystrophy (LGMD2A), which results from a deficiency of the calpain 3 protein. The LGMD2A Patient Registry is designed to be filled out online. It asks for basic demographic information and data about symptoms, diagnosis, functional level, equipment and treatments, … [Read more]
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). Researchers from the Institute of Myology participated in this study that reports an Iranian patient in whom CMS was diagnosed since he presented with … [Read more]
Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study
Neutral lipid storage disease with myopathy (NLSDM) is caused by a mutation in the gene encoding adipose triglyceride lipase (ATGL), and is characterized by the presence of numerous triglyceride-containing cytoplasmic droplets in type I muscle fibers. Major clinical manifestations concern the heart and skeletal muscle, and some patients also present diabetes mellitus. Herein, researchers from … [Read more]
