Myology research highlights

Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. In this study, a 39 year old dental surgeon suffering from BMD was treated. Muscle strength … [Read more]

AFM-Telethon is pleased to announce its Call for Proposals 2014. Its mission is to determine targets for research priorities, and to present them to the Board of Directors of AFM, and to launch the corresponding Call for Proposals. It evaluates the suitability and quality of the proposed research programs, and oversees, a posteriori, the quality … [Read more]

SMA Europe is pleased to announce its 6th international Call for SMA Research Projects.This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease.The overall goal of SMA-Europe is to help the dedicated … [Read more]

Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins via attachment of carbohydrate chains. Here, the authors describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan … [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]