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Pediatric neuromuscular diseases

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  1. The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the trea...

    Authors: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner…
    Citation: Orphanet Journal of Rare Diseases 2022 17:384
    Content type: Research Published on:

  2. Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy ...

    Authors: Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo, Lizbeth Contreras, Teresa González, María S. Pérez-Poyato, Carmen Valenzuela, Domingo González-Lamuño and Alberto Gandarillas
    Citation: Orphanet Journal of Rare Diseases 2022 17:345
    Content type: Research Published on:

  4. ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of ...

    Authors: Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco and Basil T. Darras
    Citation: Orphanet Journal of Rare Diseases 2022 17:300
    Content type: Research Published on:

  5. Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the ro...

    Authors: Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt and J. A. Mayr
    Citation: Orphanet Journal of Rare Diseases 2022 17:279
    Content type: Research Published on:

  6. The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) ...

    Authors: Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer and Tim Hagenacker
    Citation: Orphanet Journal of Rare Diseases 2022 17:276
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:387

  7. Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of mul...

    Authors: Maja Brandt, Lene Johannsen, Laura Inhestern and Corinna Bergelt
    Citation: Orphanet Journal of Rare Diseases 2022 17:274
    Content type: Review Published on:

  8. Aberrations to endoplasmic/sarcoplasmic reticulum (ER/SR) calcium concentration can result in the departure of endogenous proteins in a phenomenon termed exodosis. Redistribution of the ER/SR proteome can have...

    Authors: Lacey K. Greer, Katherine G. Meilleur, Brandon K. Harvey and Emily S. Wires
    Citation: Orphanet Journal of Rare Diseases 2022 17:225
    Content type: Research Published on:

  9. Spinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare pro...

    Authors: Gaik Siew Ch’ng, Karina Koh, Azlina Ahmad-Annuar, Fahisham Taib, Cha Ling Koh and Edmund Soon Chin Lim
    Citation: Orphanet Journal of Rare Diseases 2022 17:200
    Content type: Research Published on:

  10. Respiratory complications are the most important cause of morbidity and mortality in spinal muscular atrophy (SMA). Respiratory muscle weakness results in impaired cough, recurrent respiratory tract infections...

    Authors: Esther S. Veldhoen, Camiel A. Wijngaarde, Erik H. J. Hulzebos, Roelie M. Wösten-van Asperen, Renske I. Wadman, Ruben P. A. van Eijk, Fay Lynn Asselman, Marloes Stam, Louise A. M. Otto, Inge Cuppen, Feline E. V. Scheijmans, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Michael A. Gaytant, Cornelis K. van der Ent and W. Ludo van der Pol
    Citation: Orphanet Journal of Rare Diseases 2022 17:70
    Content type: Research Published on:

  11. The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD).

    Authors: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni and Giovanni Baranello
    Citation: Orphanet Journal of Rare Diseases 2022 17:20
    Content type: Research Published on:

  12. Recent advances in technology and expanding therapeutic opportunities in neuromuscular disorders has resulted in greater interest in and development of remote assessments. Over the past year, the rapid and abr...

    Authors: Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai and Kristin J. Krosschell
    Citation: Orphanet Journal of Rare Diseases 2022 17:5
    Content type: Position statement Published on:

  13. Person-reported outcomes measurement development for rare diseases has lagged behind that of more common diseases. In studies of caregivers of patients with rare diseases, one relies on proxy report to charact...

    Authors: Carolyn E. Schwartz, Roland B. Stark, David Cella, Katrina Borowiec, Katherine L. Gooch and Ivana F. Audhya
    Citation: Orphanet Journal of Rare Diseases 2021 16:487
    Content type: Research Published on:

  14. 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers render...

    Authors: Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill…
    Citation: Orphanet Journal of Rare Diseases 2021 16:441
    Content type: Research Published on:

  15. There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients.

    Authors: Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane and Eugenio Mercuri
    Citation: Orphanet Journal of Rare Diseases 2021 16:430
    Content type: Review Published on:

  16. X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at b...

    Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini
    Citation: Orphanet Journal of Rare Diseases 2021 16:425
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:18

  17. In 2001, Fondazione Telethon and the Italian muscular dystrophy patient organisation Unione Italiana Lotta alla Distrofia Muscolare joined their efforts to design and launch a call for grant applications speci...

    Authors: Anna Ambrosini, Danila Baldessari, Silvia Pozzi, Manuela Battaglia, Elena Beltrami, Anna Maria Merico, Marco Rasconi and Lucia Monaco
    Citation: Orphanet Journal of Rare Diseases 2021 16:408
    Content type: Review Published on:

  18. Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders o...

    Authors: Mei Yao, Yu Xia, Yijie Feng, Ying Ma, Yi Hong, Yanyi Zhang, Jie Chen, Changzheng Yuan and Shanshan Mao
    Citation: Orphanet Journal of Rare Diseases 2021 16:385
    Content type: Research Published on:

  19. Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) ...

    Authors: Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell…
    Citation: Orphanet Journal of Rare Diseases 2021 16:375
    Content type: Research Published on:

  20. Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasi...

    Authors: Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini and Acary Souza Bulle Oliveira
    Citation: Orphanet Journal of Rare Diseases 2021 16:360
    Content type: Research Published on:

  21. LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We ai...

    Authors: Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu…
    Citation: Orphanet Journal of Rare Diseases 2021 16:319
    Content type: Research Published on:

  22. Normative data are necessary for validation of new outcome measures. Recently, the 95th centile of stride speed was qualified by the European Medicines Agency as a valid secondary outcome for clinical trials i...

    Authors: Margaux Poleur, Ana Ulinici, Aurore Daron, Olivier Schneider, Fabian Dal Farra, Marie Demonceau, Mélanie Annoussamy, David Vissière, Damien Eggenspieler and Laurent Servais
    Citation: Orphanet Journal of Rare Diseases 2021 16:318
    Content type: Research Published on:

  23. Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Mo...

    Authors: Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino and Satoru Noguchi
    Citation: Orphanet Journal of Rare Diseases 2021 16:284
    Content type: Research Published on:

  24. Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The standard of care for patients with DMD has been...

    Authors: Shelagh M. Szabo, Renna M. Salhany, Alison Deighton, Meagan Harwood, Jean Mah and Katherine L. Gooch
    Citation: Orphanet Journal of Rare Diseases 2021 16:237
    Content type: Review Published on:

  25. Pharmacological corticosteroid therapy is the standard of care in Duchenne Muscular Dystrophy (DMD) that aims to control symptoms and slow disease progression through potent anti-inflammatory action. However, ...

    Authors: Stephanie Kourakis, Cara A. Timpani, Dean G. Campelj, Patricia Hafner, Nuri Gueven, Dirk Fischer and Emma Rybalka
    Citation: Orphanet Journal of Rare Diseases 2021 16:117
    Content type: Position statement Published on:

  26. With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years...

    Authors: Allison Mazzella, Mary Curry, Lisa Belter, Rosángel Cruz and Jill Jarecki
    Citation: Orphanet Journal of Rare Diseases 2021 16:96
    Content type: Research Published on:

  27. We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by ...

    Authors: Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo and Franca Benini
    Citation: Orphanet Journal of Rare Diseases 2021 16:78
    Content type: Letter to the Editor Published on:

  28. Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is o...

    Authors: Roman Panovský, Martin Pešl, Jan Máchal, Tomáš Holeček, Věra Feitová, Lenka Juříková, Lucia Masárová, Eva Pešlová, Lukáš Opatřil, Mary Luz Mojica-Pisciotti and Vladimír Kincl
    Citation: Orphanet Journal of Rare Diseases 2021 16:57
    Content type: Research Published on:

  29. Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcar...

    Authors: Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais and Mickaël Hiligsmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:47
    Content type: Review Published on:

  31. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the...

    Authors: Mei Yao, Ying Ma, Ruiying Qian, Yu Xia, Changzheng Yuan, Guannan Bai and Shanshan Mao
    Citation: Orphanet Journal of Rare Diseases 2021 16:7
    Content type: Research Published on:

  32. Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies ...

    Authors: Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin and Laurent Servais
    Citation: Orphanet Journal of Rare Diseases 2021 16:3
    Content type: Research Published on:

  33. Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a...

    Authors: Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt and Alma Kuechler
    Citation: Orphanet Journal of Rare Diseases 2020 15:242
    Content type: Research Published on:

  34. Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible benefits for patients, EAPs present several challen...

    Authors: Petra Kiefer, Janbernd Kirschner, Astrid Pechmann and Thorsten Langer
    Citation: Orphanet Journal of Rare Diseases 2020 15:194
    Content type: Research Published on:

  35. Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD vari...

    Authors: Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino and Lee-Jun C. Wong
    Citation: Orphanet Journal of Rare Diseases 2020 15:160
    Content type: Research Published on:

  36. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in F...

    Authors: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier…
    Citation: Orphanet Journal of Rare Diseases 2020 15:148
    Content type: Research Published on:

  37. Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to es...

    Authors: Salvatore Crisafulli, Janet Sultana, Andrea Fontana, Francesco Salvo, Sonia Messina and Gianluca Trifirò
    Citation: Orphanet Journal of Rare Diseases 2020 15:141
    Content type: Review Published on:

  38. Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this...

    Authors: Ilse Peterson, Rosángel Cruz, Fatou Sarr, Ann Marie Stanley and Jill Jarecki
    Citation: Orphanet Journal of Rare Diseases 2020 15:118
    Content type: Position statement Published on:

  39. Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients. The natural history o...

    Authors: Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. Wösten-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leonard H. van den Berg, Cornelis K. van der Ent and W. Ludo van der Pol
    Citation: Orphanet Journal of Rare Diseases 2020 15:88
    Content type: Research Published on:

  40. The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are ver...

    Authors: Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb and Richard S. Finkel
    Citation: Orphanet Journal of Rare Diseases 2020 15:84
    Content type: Review Published on:

  41. Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therape...

    Authors: Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Steve Vucic, Matthew C. Kiernan, Nadine A. Kasparian and Michelle A. Farrar
    Citation: Orphanet Journal of Rare Diseases 2020 15:70
    Content type: Review Published on:

  42. Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish. We inv...

    Authors: Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang and Yun Yuan
    Citation: Orphanet Journal of Rare Diseases 2019 14:250
    Content type: Research Published on:

  43. The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proxi...

    Authors: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr…
    Citation: Orphanet Journal of Rare Diseases 2019 14:179
    Content type: Research Published on:

  44. Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different or...

    Authors: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible and Janbernd Kirschner
    Citation: Orphanet Journal of Rare Diseases 2019 14:152
    Content type: Research Published on:

  45. Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients’ real needs. However, its practical implementation is not as a...

    Authors: Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller and Raffaella Willmann
    Citation: Orphanet Journal of Rare Diseases 2019 14:126
    Content type: Research Published on:

  46. X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined ...

    Authors: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke…
    Citation: Orphanet Journal of Rare Diseases 2019 14:105
    Content type: Research Published on:

  47. Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. ...

    Authors: Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith and Holly L. Peay
    Citation: Orphanet Journal of Rare Diseases 2019 14:102
    Content type: Research Published on:

  48. Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD ...

    Authors: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong and Yun Yuan
    Citation: Orphanet Journal of Rare Diseases 2019 14:43
    Content type: Research Published on:

  49. The progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limite...

    Authors: Roman Panovský, Martin Pešl, Tomáš Holeček, Jan Máchal, Věra Feitová, Lenka Mrázová, Jana Haberlová, Alžběta Slabá, Pavel Vít, Veronika Stará and Vladimír Kincl
    Citation: Orphanet Journal of Rare Diseases 2019 14:10
    Content type: Research Published on:

  50. Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidl...

    Authors: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller
    Citation: Orphanet Journal of Rare Diseases 2018 13:211
    Content type: Research Published on:

Orphanet Journal of Rare Diseases

ISSN: 1750-1172