Neuromuscular Disorders

Dr Giuseppe Fiorentino, Antonio M. Esquinas August 4, 2018

We read with interest the work of Boussaïd et al. [1] where there is a strong correlation between respiratory variables (Peak flow impairment, maximal inspiratory pressure and upright capacity), CTG repeat number and higher body mass index, non-invasive ventilation (NIV) initiation is related to a lower peak cough flow.… Read More...

Kumiko Ishiguro, Takahiro Nakayama, Masaru Yoshioka, Terumi Murakami, Sachiko Kajino, Minobu Shichiji, Takatoshi Sato, Naomi Hino-Fukuyo, Satoshi Kuru, Makiko Osawa, Satoru Nagata, Mariko Okubo, Nobuyuki Murakami, Yukiko K Hayashi, Ichizo Nishino, Keiko Ishigaki August 1, 2018

Caveolins are important components of uncoated plasma membrane invaginations that regulate both signal transduction and vesicular trafficking [1]. Mutations in the CAV3 gene encoding caveolin-3 that maps to chromosome 3p25 can produce several phenotypes, including Rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C (LGMD1C), distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyper creatine kinasemia (hyperCKemia) [2, 3].… Read More...

Florian Barthélémy, Nicolas Wein July 26, 2018

Duchenne muscular dystrophy (DMD) is one of the most common childhood neuromuscular diseases (1: 3500 male births [1]). It was named after the French neurologist Guillaume Duchenne, who was the first to describe the symptoms in 1861. The disease DMD is caused by mutations in the X-linked DMD gene that is one of the largest genes in the human genome (79 exons coding for a 14-kb transcript), producing the giant dystrophin protein (427 kDa) (Figure 1).… Read More...

P. Carbonell-Corvillo, E. Tristán-Clavijo, M. Cabrera-Serrano, E. Servián-Morilla, G. García-Martín, L. Villarreal-Pérez, E. Rivas-Infante, E. Area-Gómez, M.I. Chamorro-Muñoz, A. Gil-Gálvez, A. Miranda-Vizuete, A. Martinez-Mir, N. Laing, C. Paradas July 26, 2018

Laing distal myopathy is an autosomal dominant disease, commonly characterized by slowly progressive distal weakness, involving the anterior compartment of the legs, thus causing the typical “hanging big toe” sign [1]. Nevertheless, highly variable clinical and histological phenotypes have been widely reported in Laing distal myopathy [2–4], and the same mutation in the MYH7 gene can cause a different clinical picture regarding age of onset, weakness pattern or severity and variable pathologic profiles, even within the same family [3].… Read More...

Sophelia Hoi-Shan Chan, Nens van Alfen, Inger Johanne Thuestad, Janice Ip, Angel On-Kei Chan, Christopher Mak, Brian Hon-Yin Chung, Aad Verrips, Erik-Jan Kamsteeg July 21, 2018

Mutations in the DYNC1H1 gene are associated with both diseases in the central and peripheral nervous system. Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) is located on chromosome 14q32 with 78 exons that encode the heavy chain protein of the cytoplasmic dynein 1 motor protein complex [1].… Read More...

Christopher W. Ward, Frederick Sachs, Ernest D. Bush, Thomas M. Suchyna July 21, 2018

DMD is a muscle disease caused by the genetic depletion of dystrophin, a cytoskeletal protein whose functions include the organization of sarcolemmal and cytoskeletal components [1] and regulation of signaling proteins. In DMD muscle the absence of dystrophin is linked to an increase in the permeability of the sarcolemma to extracellular Ca2+ [2,3].… Read More...

M.J. Damen, A. van der Meer, N.C. Voermans, A.A. Tieleman July 20, 2018

Myotonic dystrophy type 2 (DM2) is a dominantly inherited multisystem disorder caused by a CCTG repeat expansion in intron 1 of the CNBP gene on chromosome 3q21.3. DM2 is characterized by progressive proximal muscle weakness, myotonia, early-onset cataract, and multiorgan involvement including cardiac conduction abnormalities, gastrointestinal involvement and endocrine disturbances [1].… Read More...

S. Fecarotta, V. Gragnaniello, Casa R. Della, A. Romano, E. Raiano, A. Torella, M. Savarese, V. Nigro, P. Strisciuglio, G. Andria, G. Parenti July 20, 2018

Alpha-dystroglycanopathies are a genetically and clinically heterogeneous group of neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. Dystroglycan is a protein complex composed of alpha and beta subunits, and is an essential link between the extracellular matrix and the actin-associated cytoskeleton, especially in muscle tissues.… Read More...

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