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Source: Neuromuscular Disorders
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Clinical and genetic characteristics of Chinese patients with reducing body myopathy
The human four and a half LIM domain 1 (FHL1) gene is located on Xq26.3 and encodes a 32kDa protein characterized by four and a half LIM domain structure [1]. The LIM domain is a highly conserved cysteine-rich tandem-zinc finger containing highly conserved cysteine and histidine residues to coordinate the binding to zinc ions, which is essential to stabilize the structure [2]. In addition to the full length FHL1 (FHL1A), there are two additional FHL1 gene products FHL1B and FHL1C derived from alternative splicing which contain less LIM domain structure [3-5].
Source: Neuromuscular Disorders - February 11, 2021 Category: Neurology Authors: Lei Chen, Hui-Xia Lin, Xin-Xia Yang, Dian-Fu Chen, Hai-Lin Dong, Hao Yu, Gong-Lu Liu, Zhi-Ying Wu Source Type: research
Miyoshi Myopathy and Limb Girdle Muscular Dystrophy R2 are the same disease
Dysferlinopathy is an autosomal recessively inherited form of muscular dystrophy, which predominantly affects skeletal muscle, resulting in progressive weakness and muscle wasting.
Source: Neuromuscular Disorders - January 21, 2021 Category: Neurology Authors: Ursula Moore, Heather Gordish, Jordi Diaz-Manera, Meredith K. James, Anna G. Mayhew, Michela Guglieri, Roberto Fernandez Torron, Laura E. Rufibach, Jia Feng, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharu Source Type: research
A Systematic Review of Late-onset and Very-late-onset Multiple Acyl-coenzyme A Dehydrogenase Deficiency: Cohort Analysis and Patient Report from Taiwan
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), which is also called glutaric aciduria type II, is a rare autosomal recessive inherited disorder of fatty acid oxidation that is mainly caused by pathogenic variants in ETFA, ETFB, and ETFDH, which are responsible for electron transfer to the respiratory chain, subsequently causing mitochondrial dysfunction and lipid storage myopathy [1]. Regarding the clinical aspects, MADD patients can be categorized into the following 3 broad phenotypes:[2,3] type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset).
Source: Neuromuscular Disorders - January 13, 2021 Category: Neurology Authors: Yih-Chih Kuo, Hsueh-Wen Hsueh, Sung-Ju Hsueh, Ni-Chung Lee, Ming-Ju Hsieh, Chi-Chao Chao, Yin-Hsiu Chien, Pei-Hsin Huang, Chih-Chao Yang Source Type: research
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy.
Anti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) myopathy is a rare, disabling, auto-immune myopathy with necrotizing pathological features, that usually follows statin exposure. Generally, patients present with proximal muscle weakness, elevated CK levels and high titres of antibodies against HMGCR [1] that persist despite statins discontinuation, while improvement typically follows the start of immunotherapy [2].
Source: Neuromuscular Disorders - December 27, 2020 Category: Neurology Authors: Angela Zuppa, Chiara Demichelis, Giuseppe Meo, Valeria Prada, Chiara Gemelli, Maria Infantino, Mariangela Manfredi, Giampaola Pesce, Alberto S. Tagliafico, Luana Benedetti, Chiara Fiorillo, Angelo Schenone, Luca Quartuccio, Marina Grandis Tags: Case report Source Type: research
Persistently elevated CK and lysosomal storage myopathy associated with Mucolipin 1 defects
Mucolipidosis type IV (MLIV; OMIM 252650) is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1 (OMIM: 605248) [1]. This encodes mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular trafficking of lipids and proteins, exocytosis and fusion [2-4].
Source: Neuromuscular Disorders - December 21, 2020 Category: Neurology Authors: Alberto A. Zambon, Alexandra Lemaigre, Rahul Phadke, Stephanie Grunewald, Caroline Sewry, Anna Sarkozy, Emma Clement, Francesco Muntoni, Genomics England Research Consortium Tags: Case report Source Type: research
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
Nemaline myopathies (NEM) represent a heterogeneous group of congenital myopathies, characterized by skeletal muscle hypotonia and respiratory distress. Histomorphologically, NEMs are defined by the presence of sarcoplasmic rod-like inclusions (rods, or nemaline bodies) in muscle fibres that can be visualised using modified G ömöri trichrome staining [1]. They are composed of Z-disc proteins, such as alpha-actinin, filamin, telethonin, myopalladin, myotilin and myozenin [2]. Ultrastructurally, nemaline bodies appear electron dense, may show structural continuity with Z-discs, have a similar lattice structure, and there f...
Source: Neuromuscular Disorders - December 5, 2020 Category: Neurology Authors: Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert Source Type: research
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores
Actinopathies represent a specific subgroup of congenital myopathies with protein accumulation in muscle biopsy due to mutations in the skeletal muscle α-actin gene (ACTA1) [1,2]. Both dominant and recessive traits have been reported, resulting in variable protein expression [3–9] and dysfunctional sarcomere contractility [10,11]. The observation of sporadic patients with de novo dominant mutations suggests a high new mutation rate in ACTA1 [12, 13]. The most common morphological findings are nemaline bodies - rod-like structures - which typically accumulates in subsarcolemmal areas [2,8,14,15].
Source: Neuromuscular Disorders - November 30, 2020 Category: Neurology Authors: Matteo Garibaldi, Fabiana Fattori, Elena Maria Pennisi, Gioia Merlonghi, Laura Fionda, Fiammetta Vanoli, Luca Leonardi, Elisabetta Bucci, Stefania Morino, Andrea Micaloni, Tommaso Tartaglione, Bas Uijterwijk, Martijn Zierikzee, Coen Ottenheijm C, Enrico S Source Type: research
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly
Neutral lipid storage disease with myopathy (NLSDM, MIM 610717) is an ultra-rare, inherited autosomal recessive metabolic myopathy [1,2]. It is typically observed in adults as progressive myopathy with cardiomyopathy and patients have lipid accumulation in the muscle fibers. Several pathogenic variants have been identified in its causative gene, patatin-like phospholipase domain containing 2 (PNPLA2), which encodes the adipose triglyceride lipase (ATGL) protein [3].
Source: Neuromuscular Disorders - November 18, 2020 Category: Neurology Authors: Daniela Avila-Smirnow, Gloria Dur án-Saavedra, Pilar Ovalle-Besa, Roger Gejman-Enríquez Tags: Case report Source Type: research
Sporadic Late-onset Nemaline Myopathy with monoclonal gammopathy of undetermined significance: Report of four patients
Sporadic late-onset nemaline myopathy (SLONM) is a rare, acquired muscle disease presenting with subacute progression in adulthood. It is characterized by proximal and axial muscle weakness and atrophy and the presence of nemaline rods in myofibers on muscle biopsy [1,2]. On histopathological muscle evaluation, nemaline rods recognized on modified G ömöri's trichrome staining as intermyofibrillar or subsarcolemmal dark red clusters with mild to no inflammation [3]. In contrast to the congenital nemaline myopathy, nemaline rods show a tendency to crowd atrophic fibers in SLONM [4].
Source: Neuromuscular Disorders - November 12, 2020 Category: Neurology Authors: Ali Asghar Okhovat, Yalda Nilipour, Reza Boostani, Fahimeh Vahabizad, Safa Najmi, Shahriar Nafissi, Farzad Fatehi Source Type: research
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
Tropomyosins are regulatory proteins located on the thin muscle filaments. They stabilise the thin filaments and control muscle contraction. Four distinct genes, TPM1, TPM2, TPM3 and TPM4, express different isoforms of tropomyosin at a level that varies depending on muscle and fibre type. TPM2, located at 9p13.3, encodes beta-tropomyosin. This gene consists of 9 exons and expresses four isoforms (TPM2.1, TPM2.2, TPM2.3, TPM2.4) through alternative splicing [1]. TPM2 expression is enriched in slow type 1 striated muscle fibres, although, it is expressed in all muscles of the body.
Source: Neuromuscular Disorders - October 1, 2020 Category: Neurology Authors: Schaida Schirwani, Anna Sarkozy, Rahul Phadke, Anne-Marie Childs, Rachael Mein, Azzam Ismail, Audrey Smith, Francesco Muntoni, Hobson Emma, Karen Pysden Source Type: research
Muscle function & homeostasis / molecular therapeutic approaches
The Y-box binding protein 3 (YBX3) has been described as a transcriptional regulator and translational repressor of various proteins in skeletal and heart muscle. Its functions include, among others, the gradual repression of myogenin during myogenesis. By exome sequencing in a Finnish patient with an unusual form of nemaline myopathy, we have found two rare YBX3 variants, NP_003642.3:p.(Ser34Arg) and NP_003642.3:p.(Arg129Trp). Our previous results have shown that the variants affect the localisation of the protein and its post-translational modifications in transiently transfected cell cultures.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: L. Sagath, J. Blondelle, J. Laitila, V. Lehtokari, K. Kiiski, M. Gr önholm, C. Wallgren-Pettersson, S. Lange, K. Pelin Source Type: research
Muscle function & homeostasis / molecular therapeutic approaches
Nebulin (600-900 kDa) is a giant filamentous protein located in the thin filament of the skeletal muscle sarcomere. It has a highly modular structure, consisting of more than 200 actin-binding simple repeats along the length of the protein. The simple repeats in the central part of the protein are further organised into super repeats (numbered S1-S22). Mutations in the nebulin gene (NEB, 183 exons) are the most common cause of recessively inherited nemaline myopathy. Due to extensive alternative splicing, hundreds of different nebulin isoforms are expressed in skeletal muscle.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: J. Laitila, M. Hanif, J. Sarparanta, J. Lehtonen, A. Khattab, M. Gr önholm, C. Wallgren-Pettersson, K. Pelin Source Type: research
Dmd & bmd – clinical
Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive skeletal myopathy as well as a cardiomyopathy. Historically, it is reported that patients with DMD/BMD experience significant morbidity/mortality as a result of rhythm abnormalities. However, natural history data is limited regarding the specific mode of death, e.g. heart failure vs. sudden cardiac death vs. non-cardiac death. We identified 82 patients at our institution to analyze retrospectively (67 DMD/15 BMD). Average age was 21 (range 10-38) years.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: E. Nealon, B. Beckman, N. Kertesz, L. Cripe Source Type: research
Myasthenia & related disorders
Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant rare disorder that is caused by mutations in the genes for voltage gated calcium channel CaV1.1 (CACNA1S) and NaV1.4 (SCN4A). Patients with hypoPP may suffer from periodic paralysis alone, periodic paralysis with weakness or permanent weakness. HypoPP has been known to be associated with vacuolar myopathy for decades but the cause of this has not been known. We have investigated a cohort of 14 hypoPP patients with the R528H mutation in the CACNA1S gene for vacuoles and their content.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: T. Krag, S. Holm-Yildiz, N. Witting, J. Vissing Source Type: research
Myasthenia & related disorders
Mutations in the sodium channel gene, SCN4A, encoding the Nav1.4 voltage-gated sodium channel, are well known causes of the skeletal muscle channelopathies: periodic paralyses (hyperkalemic, normokalemic, and hypokalemic periodic paralysis), paramyotonia congenita and other forms of myotonia. In addition, rare recessive SCN4A mutations have been associated with congenital myasthenic myopathy and congenital myopathy with hypotonia. To date over 40 dominant mutations in SCN4A have been reported to cause variable phenotypes depending on the type and location of the mutations.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: J. Palmio, R. Mannikko, B. Udd Source Type: research
