Myology research highlights

Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, the authors of the present study developed a mouse model that carries a Dmd exon 2 … [Read more]

Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hsp40 co-chaperone. LGMD1D muscle has rimmed vacuoles and inclusion bodies containing DNAJB6, Z-disc proteins and TDP-43. DNAJB6 is expressed as two isoforms; DNAJB6a and DNAJB6b. Both isoforms contain LGMD1D mutant residues and are expressed in human muscle. To identify … [Read more]

In this study, the authors evaluated, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes and rarer forms of CMT caused by mutations in RAB7 and GDAP1 genes. Axonal loss examinations revealed that the density of both Meissner corpuscles and intrapapillary myelinated endings was reduced in skin samples from … [Read more]

Merosin-deficient congenital muscular dystrophy type-1A (MDC1A) is characterised by progressive muscular dystrophy and dysmyelinating neuropathy caused by mutations of the α2 chain of laminin-211, the predominant laminin isoform of muscles and nerves. MDC1A has no available treatment so far, although preclinical studies showed amelioration of the disease by the overexpression of miniagrin (MAG). MAG reconnects … [Read more]

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. DM1 is caused by an expanded CTG repeat in the 3′- untranslated region of DMPK, the gene encoding Dystrophia Myotonica-Protein Kinase. ASOs containing constrained ethyl-modified (cEt) residues exhibit significantly increased RNA binding affinity and in vivo potency relative to those … [Read more]

No therapy is currently available for spinal muscular atrophy (SMA), a neuromuscular disease characterised by the selective loss of spinal motor neurons due to the depletion of the survival of motor neuron (SMN) protein and the leading genetic cause of death in childhood. The present study reports that insulin-like growth factor-1 receptor (Igf-1r) gene expression … [Read more]

Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists … [Read more]

This case series examined preoperative findings and the surgical, anesthetic, and postoperative management of 6 patients with congenital myopathies (CMs) and congenital muscular dystrophies (CMDs) treated at a tertiary medical institution with orthognathic surgery over 15 years to describe pertinent considerations for performing orthognathic surgery in these complex patients. Patients with CMs or CMDs often … [Read more]

Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 … [Read more]

Myofibrillar myopathies (MFM) were described in the mid-1990s as a group of diseases sharing common histological features, including an abnormal accumulation of intrasarcoplasmic proteins, the presence of vacuoles and a disorganisation of the intermyofibrillar network beginning at the Z-disk. The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, … [Read more]