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Congenital myopathy

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https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#1
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#2
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#3
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28202702/congenital-myopathy-associated-with-the-triadin-knockout-syndrome
#4
Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen
OBJECTIVE: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. METHODS: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. RESULTS: A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#5
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28185170/mechanisms-of-cardiomyocyte-proliferation-and-differentiation-in-development-and-regeneration
#6
REVIEW
Jessie Wettig Yester, Bernhard Kühn
PURPOSE OF REVIEW: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes...
February 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#7
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28134641/craniofacial-manifestations-in-severe-nemaline-myopathy
#8
Yunfeng Xue, Pilar L Magoulas, John O Wirthlin, Edward P Buchanan
Nemaline myopathy (NM) is a rare congenital muscular disease characterized by the presence of rod (nemaline) bodies visualized on muscle biopsy. The disease is genetically and clinically heterogeneous, and the age of onset can vary from neonate to adult. Patients typically present initially with diffuse muscle weakness and hypotonia. The disease also afflicts facial musculature and can cause anomalous facial growth and development. The authors report a patient of early onset NM with significant craniofacial abnormalities...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28111795/myopathology-in-times-of-modern-imaging
#9
Heinz Jungbluth
Over the last two decades muscle (magnetic resonance) imaging has become an important complementary tool in the diagnosis and differential diagnosis of inherited neuromuscular disorders, particularly in conditions where the pattern of selective muscle involvement is often more predictive of the underlying genetic background than associated clinical and histopathological features. Following an overview of different imaging modalities, the present review will give a concise introduction to systematic image analysis and interpretation in genetic neuromuscular disorders...
January 23, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#10
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087121/upper-extremity-outcome-measures-for-collagen-vi-related-myopathy-and-lama2-related-muscular-dystrophy
#11
Roxanna M Bendixen, Jocelyn Butrum, Mina S Jain, Rebecca Parks, Bonnie Hodsdon, Carmel Nichols, Michelle Hsia, Leslie Nelson, Katherine C Keller, Michelle McGuire, Jeffrey S Elliott, Melody M Linton, Irene C Arveson, Fatou Tounkara, Ruhi Vasavada, Elizabeth Harnett, Monal Punjabi, Sandra Donkervoort, Jahannaz Dastgir, Meganne E Leach, Anne Rutkowski, Melissa Waite, James Collins, Carsten G Bönnemann, Katherine G Meilleur
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28040389/homozygous-truncating-mutation-in-prenatally-expressed-skeletal-isoform-of-ttn-gene-results-in-arthrogryposis-multiplex-congenita-and-myopathy-without-cardiac-involvement
#12
Ana Fernández-Marmiesse, M Carmen Carrascosa-Romero, Blanca Alfaro Ponce, Andres Nascimento, Carlos Ortez, Norma Romero, Lourdes Palacios, Cecilia Jimenez-Mallebrera, Cristina Jou, Sofía Gouveia, María L Couce
We report the case of a newborn with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement in which, using a customized targeted next-generation sequencing assay for 64 myopathy-associated genes, we detected a novel homozygous truncating mutation, c.38661_38665del, in exon 197 of the TTN gene that is expressed only in the fetal skeletal isoform. Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2. Muscle pathology showed fibers with core-like areas devoid of oxidative staining and cytoplasmic bodies...
November 11, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28017374/biallelic-mutations-in-mypn-encoding-myopalladin-are-associated-with-childhood-onset-slowly-progressive-nemaline-myopathy
#13
Satoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto
Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterized by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variation in severity has been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it often manifests as a severe phenotype. Although ten mutant genes are currently known to be associated with NM, only ACTA1 is associated with intranuclear rod myopathy...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28012042/dihydropyridine-receptor-dhpr-cacna1s-congenital-myopathy
#14
Vanessa Schartner, Norma B Romero, Sandra Donkervoort, Susan Treves, Pinki Munot, Tyler Mark Pierson, Ivana Dabaj, Edoardo Malfatti, Irina T Zaharieva, Francesco Zorzato, Osorio Abath Neto, Guy Brochier, Xavière Lornage, Bruno Eymard, Ana Lía Taratuto, Johann Böhm, Hernan Gonorazky, Leigh Ramos-Platt, Lucy Feng, Rahul Phadke, Diana X Bharucha-Goebel, Charlotte Jane Sumner, Mai Thao Bui, Emmanuelle Lacene, Maud Beuvin, Clémence Labasse, Nicolas Dondaine, Raphael Schneider, Julie Thompson, Anne Boland, Jean-François Deleuze, Emma Matthews, Aleksandra Nadaj Pakleza, Caroline A Sewry, Valérie Biancalana, Susana Quijano-Roy, Francesco Muntoni, Michel Fardeau, Carsten G Bönnemann, Jocelyn Laporte
Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca(2+) channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca(2+) release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels...
December 23, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/28003497/expanding-the-spectrum-of-congenital-myopathy-linked-to-recessive-mutations-in-scn4a
#15
Sandra Mercier, Xavière Lornage, Edoardo Malfatti, Pascale Marcorelles, Franck Letournel, Cécile Boscher, Gaëlle Caillaux, Armelle Magot, Johann Böhm, Anne Boland, Jean-François Deleuze, Norma Romero, Yann Péréon, Jocelyn Laporte
No abstract text is available yet for this article.
January 24, 2017: Neurology
https://www.readbyqxmd.com/read/28003463/congenital-myopathy-results-from-misregulation-of-a-muscle-ca2-channel-by-mutant-stac3
#16
Jeremy W Linsley, I-Uen Hsu, Linda Groom, Viktor Yarotskyy, Manuela Lavorato, Eric J Horstick, Drew Linsley, Wenjia Wang, Clara Franzini-Armstrong, Robert T Dirksen, John Y Kuwada
Skeletal muscle contractions are initiated by an increase in Ca(2+) released during excitation-contraction (EC) coupling, and defects in EC coupling are associated with human myopathies. EC coupling requires communication between voltage-sensing dihydropyridine receptors (DHPRs) in transverse tubule membrane and Ca(2+) release channel ryanodine receptor 1 (RyR1) in the sarcoplasmic reticulum (SR). Stac3 protein (SH3 and cysteine-rich domain 3) is an essential component of the EC coupling apparatus and a mutation in human STAC3 causes the debilitating Native American myopathy (NAM), but the nature of how Stac3 acts on the DHPR and/or RyR1 is unknown...
January 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27976420/myopathology-in-congenital-myopathies
#17
Caroline A Sewry, Carina Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterised by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth whilst others have a milder, moderately progressive or non-progressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner or arise de novo...
December 15, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27941137/tubular-aggregates-and-cylindrical-spirals-have-distinct-immunohistochemical-signatures
#18
Stefen Brady, Estelle G Healy, Qiang Gang, Matt Parton, Ros Quinlivan, Saiju Jacob, Elizabeth Curtis, Safa Al-Sarraj, Caroline A Sewry, Michael G Hanna, Henry Houlden, David Beeson, Janice L Holton
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals...
December 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27939133/progressive-structural-defects-in-canine-centronuclear-myopathy-indicate-a-role-for-hacd1-in-maintaining-skeletal-muscle-membrane-systems
#19
Gemma L Walmsley, Stéphane Blot, Kerrie Venner, Caroline Sewry, Jocelyn Laporte, Jordan Blondelle, Inès Barthélémy, Marie Maurer, Nicolas Blanchard-Gutton, Fanny Pilot-Storck, Laurent Tiret, Richard J Piercy
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated muscle-specific enzyme in more differentiated skeletal muscle remain unknown. Canine HACD1 deficiency is histopathologically classified as a centronuclear myopathy (CNM). We investigated the hypothesis that muscle from HACD1-deficient dogs has membrane abnormalities in common with CNMs with different genetic causes...
December 8, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#20
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
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