Myology research highlights
RSS feedDeflazacort in Dysferlinopathies
Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). In this study, the one-year-natural course of dysferlinopathy, and the safety and … [Read more]
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families. Here, the authors report the genetic cause of this disorder. Multipoint parametric linkage analysis of six Dutch patients identified a homozygous region of 2.1 Mb on … [Read more]
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dominant form of PEO is genetically heterogeneous. Recently, causative mutations have been reported in several nuclear genes that … [Read more]
Welander 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]
First description of Asian patients with LGMD1D
DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-terminal domain. Only three different mutations have been identified in 11 families. In this … [Read more]
LARGE gene therapy in mouse models of dystroglycanopathy
Dystroglycanopathies are a group of congenital muscular dystrophies (CMD) often caused by mutations in genes encoding glycosyltransferases that lead to hypoglycosylation of α-dystroglycan (α-DG) and reduce its extracellular matrix binding activity. Overexpressing LARGE (formerly known as like-glycosyltransferase) generates an extracellular matrix binding carbohydrate epitope in cells with CMD-causing mutations in not only LARGE but also … [Read more]
Responsiveness of the Motor Function Measure in patients with Spinal Muscular Atrophy
This observational retrospective multicenter cohort study aimed to assess the ability of the Motor Function Measure (MFM) to detect changes in the progression of spinal muscular atrophy (SMA). Seventeen departments of paediatric physical medicine were involved in this study that recruited 112 volunteer SMA patients aged 5.7 to 59 years with no other treatment than … [Read more]
