Myology research highlights

Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) the … [Read more]

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, what triggers muscle defect and when alteration arises remains obscure. To gain further insights into the molecular mechanisms of the disease, … [Read more]

Duchenne muscular dystrophy, a progressive muscle disorder that occurs in males, causes a gradual decline in muscle strength. This progressive decline is associated with the development of scoliosis. Previous studies have shown that the use of glucocorticoids slows the progression of scoliosis, but it is unknown if the spine remains straight in the long term. … [Read more]

Duchenne muscular dystrophy (DMD) is a severe inherited, muscle wasting disorder caused by mutations in the DMD gene. Gene therapy development for DMD has concentrated on vector-based DMD minigene transfer, cell-based gene therapy using genetically modified adult muscle stem cells or healthy wild-type donor cells, and antisense oligonucleotide-induced exon skipping therapy to restore the reading … [Read more]

In the context of future adeno-associated viral (AAV)-based clinical trials for Duchenne myopathy, AAV genome fate in dystrophic muscles is of importance considering the viral capsid immunogenicity that prohibits recurring treatments. Here, researchers have demonstrated that AAV genomes encoding non-therapeutic U7 were lost from mdx dystrophic muscles within 3 weeks after intramuscular injection. In contrast, … [Read more]

In order to understand the contemporary natural history of Duchenne muscular dystrophy (DMD), the authors report 6-minute walk distance (6MWD) and its change over time from a large single centre population of corticosteroid treated DMD boys. Sixty-five boys on daily corticosteroid treatment were identified with a mean (SD) age of 9.5 (2.3) years at first … [Read more]

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle … [Read more]

In this study, the authors aimed to identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family in 14 members of a Korean family. Three individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. Exome sequencing was performed on 6 samples (3 affected and … [Read more]

Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. In this study, the authors performed a prospective observational study of 95 participants with … [Read more]

DMD is a severe X linked neuromuscular disorder where symptoms may arise as early as 2 years of age and patient surviving till adulthood is extremely rare. This is caused by mutations in dystrophin-a critical gene for muscle fibre strength- leading to a severe reduction of the dystrophin protein in muscles. A milder form DMD … [Read more]