Myology research highlights

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the laminin-α2 gene (OMIM: 607855). Currently, no treatment other than palliative care exists for this disease. In previous work from the authors, genetic interventions in the Lama2Dy-w mouse model for MDC1A demonstrated that limited regeneration and uncontrolled apoptosis are … [Read more]

In the present study, the authors assessed the presence, frequency and pattern of MRI abnormalities in non-dystrophic myotonia patients. They reviewed T1-weighted and STIR (short-tau-inversion-recovery) 3T MRI sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with CLCN1 mutations and 10 with SCN4A mutations, and … [Read more]

This study aimed to identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations. Genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission were carried out. The authors identified 16 recessive mutations in GFPT1 in 11 patients, of which 12 are novel. Ten patients had slowly … [Read more]

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. This study describes ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 … [Read more]

Central Core Disease is a myopathy often arising from mutations in the RYR1 gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. In this study, the authors examined the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in … [Read more]

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 … [Read more]

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]