Neuromuscular Disorders

J. Svahn, P. Laforêt, C. Vial, N. Streichenberger, N. Romero, C. Bouchet-Séraphin, A. Bruneel, T. Dupré, N. Seta, R. Menassa, L. Michel-Calemard, T. Stojkovic May 9, 2019

Abnormalities of the N-glycosylation and O-mannosylation pathways are respectively involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies [1–4]. Dolichol-P-mannose (DPM) is produced by the DPM synthase and plays an important role, as a mannosyl donor, in four different glycosylation pathways (N-glycosylation, C-mannosylation, glycosyl-phosphatidylinositol anchor assembly, and O-mannosylation) [1].… Read More...

Corinna Preuße, Arpad von Moers, Heike Kölbel, Debora Pehl, Hans-Hilmar Goebel, Ulrike Schara, Werner Stenzel May 9, 2019

Duchenne muscular dystrophy (DMD) is an X-chromosomal recessively inherited disease, which affects boys from early childhood on. Loss or severe reduction of dystrophin protein induces a plethora of different physiological mechanisms finally leading to myofibre necrosis, atrophy, structural abnormalities, loss of homeostatic functions, and exhaustion of satellite cells.… Read More...

Dr Jennifer Lemon, Dr Lucy Turner, Dr Poonam Dhamaraj, Dr Stefan Spinty May 9, 2019

We read with interest the recent article by Ivanyuk and colleagues [1] who presented two cases of suspected Zoledronate induced rhabdomyolysis with myoglobinuria in boys with Duchenne Muscular Dystophy (DMD). Since 2014, 13 patients affected by DMD and steroid induced osteoporosis have been treated at our centre with intravenous Zoledronate.… Read More...

Gaia Scarpini, Carlotta Spagnoli, Grazia Gabriella Salerno, Susanna Rizzi, Daniele Frattini, Carlo Fusco May 4, 2019

In a recent paper Meng et al. [1] described three Chinese patients with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM), caused by mutations in the histidine triad nucleotide binding protein (HINT1) gene.

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Ting Lin, Paul Gibbons, Anita J. Mudge, Kayla M.D. Cornett, Manoj P. Menezes, Joshua Burns April 26, 2019

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies affecting 3 to 82 per 100,000 individuals of both sexes and all backgrounds [1]. CMT is characterised by demyelination and/or axonal degeneration of the peripheral nerves, with typical onset in the first two decades of life [2,3].… Read More...

A.L. Frongia, D. Natera-de Benito, C. Ortez, M. Alarcón, A. Borrás, J. Medina, M. Vigo, N. Padrós, O. Moya, J. Armas, L. Carrera-García, J. Expósito-Escudero, D. Cuadras, S. Bernal, L. Martorell, J. Colomer, A. Nascimento April 19, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in the gene encoding survival motor neuron 1 (SMN1), which result in a degeneration of motor neurons in the spinal cord and brain stem [1].… Read More...

Sarah J. Beecroft, Martijn van de Locht, Josine M. de Winter, Coen A. Ottenheijm, Caroline A. Sewry, Shehla Mohammed, Monique M. Ryan, Ian R. Woodcock, Lauren Sanders, Rebecca Gooding, Mark R. Davis, Emily C. Oates, Nigel G. Laing, Gianina Ravenscroft, Catriona A. McLean, Heinz Jungbluth April 12, 2019

Mutations in MYH7 cause a wide range of cardiac and skeletal muscle diseases, including both dilated and hypertrophic cardiomyopathy (MIM 613426, MIM192600), left ventricular non-compaction (MIM 613426), dominant and recessive myosin storage myopathy (MSM, MIM 608358, MIM 255160), Laing distal myopathy (MIM 160500), scapuloperoneal myopathy (MIM 181430) [1,2], and subgroups of congenital myopathies with characteristic histopathological features such as multi-minicores [3] and myofiber type disproportion with small type I myofibers [4].… Read More...

Simona Saredi, Sara Gibertini, Leslie Matalonga, Laura Farina, Anna Ardissone, Isabella Moroni, Marina Mora April 10, 2019

The autosomal recessive congenital muscular dystrophy type 1A (MDC1A) results from a variety of mutations, either missense, nonsense, deletions or splice site variants, in the LAMA2 gene [1]. The LAMA2 gene, comprising 65 exons, encodes the α2 chain subunit of laminin-2 (merosin).… Read More...

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