Neuromuscular Disorders

Elena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, Angela Abicht, Stefanie Bulst, Krause Sabine, Benedikt Schoser, Peter Reilich, Maggie C. Walter September 6, 2017

Limb-girdle muscular dystrophy type 2 G is caused by different mutations in the telethonin gene (also named titin-cap or TCAP) [1,2]. This relatively mild form of autosomal recessive limb-girdle muscular dystrophy was first reported in 2000 in three Brazilian families, the disease was mapped to chromosome 17q11–12 and is caused by different mutations in the sarcomeric protein telethonin with consecutive telethonin deficiency in the muscles of the affected patients [1].… Read More...

Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci September 6, 2017

Lipodystrophies are a heterogeneous group of disorders characterized by congenital or acquired loss of adipose tissue [1]. The loss of adipose tissue is associated with insulin resistance in patients with lipodystrophy [2]. The body fat is almost totally absent in patients with generalized lipodystrophy.… Read More...

Hidehiro Ishikawa, Akira Taniguchi, Yuichiro Ii, Osamu Higuchi, Hidenori Matsuo, Shunya Nakane, Masaru Asahi, Atsushi Niwa, Hidekazu Tomimoto September 6, 2017

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction that is characterized by muscle weakness and fatigue. Autoantibodies against acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) are sensitive and specific diagnostic markers, as well as pathogenic factors of MG [1].… Read More...

Anna-Karin Kroksmark, Marie-Louise Stridh, Anne-Berit Ekström September 6, 2017

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by an unstable CTG-repeat expansion in the DM1 protein kinase gene (DMPK gene) on chromosome 19q13.3 [1]. The disorder is multi-systemic with symptoms from the muscles, eyes, heart, brain, gastrointestinal tract and endocrine system [2,3].… Read More...

Jacob J. Gissy, Teresa Johnson, Deborah J. Fox, Anil Kumar, Emma Ciafaloni, Anthonie J. van Essen, Holly L. Peay, Ann Martin, Ann Lucas, Richard S. Finkel, MD STARnet September 6, 2017

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects 1 in 3500 to 7000 males ages 5 to 9 in the U.S. [1]. Deletions, duplications or point mutations in the DMD gene cause absent, reduced or defective dystrophin in muscle [2].… Read More...

Vincent Mayousse, Aurélien Jeandel, Nicolas Blanchard-Gutton, Catherine Escriou, Kirsten Gnirs, G. Diane Shelton, Stéphane Blot September 6, 2017

Acquired myasthenia gravis (MG) is an immune-mediated disease affecting the neuromuscular junction (NMJ). Acquired MG is characterized by destruction and loss of acetylcholine receptors (AChR) on the motor end-plates of striated muscles by autoantibodies, delaying neuromuscular transmission and resulting in muscle weakness [1].… Read More...

Güldal Inal-Gültekin, Bahar Toptaş-Hekimoğlu, Zeliha Görmez, Özlem Gelişin, Hacer Durmuş, Bekir Ergüner, Hüseyin Demirci, Mahmut Ş. Sağıroğlu, Yeşim Parman, Feza Deymeer, Hülya Yılmaz-Aydoğan, Sadrettin Pençe, Can Ebru Bekircan-Kurt, Ersin Tan, Sevim Erdem-Özdamar, Duran Üstek, Urs Giger, Oğuz Öztürk, Piraye Serdaroğlu-Oflazer September 6, 2017

• First report to investigate the molecular variations of McArdle disease in Turkey.• Establishment of a molecular diagnostic algorithm for patients with McArdle disease in Turkey.• Discovery of novel mutations with putative pathogenicity.• Application of next generation sequencing techniques for single gene rare disorders.… Read More...

S. Hanche-Olsen, K. Matiasek, J. Molín, M. Rosati, C. Hahn, K. Hultin Jäderlund, G. Gröndahl September 6, 2017

The first case clusters of a unique neuromuscular syndrome in horses characterized by knuckling in the metatarsophalangeal joints were observed in Norway in 1995 [1] and Sweden in 1998 [2]. Since then, more than 400 cases have been identified throughout Norway, Sweden and Finland, making this disease the most prevalent polyneuropathy in equids in this part of the world [3–7].… Read More...

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