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Nemaline myopathy

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https://www.readbyqxmd.com/read/28494946/tropomodulins-and-leiomodins-actin-pointed-end-caps-and-nucleators-in-muscles
#1
REVIEW
Velia M Fowler, Roberto Dominguez
Cytoskeletal structures characterized by actin filaments with uniform lengths, including the thin filaments of striated muscles and the spectrin-based membrane skeleton, use barbed and pointed-end capping proteins to control subunit addition/dissociation at filament ends. While several proteins cap the barbed end, tropomodulins (Tmods), a family of four closely related isoforms in vertebrates, are the only proteins known to specifically cap the pointed end. Tmods are ∼350 amino acids in length, and comprise alternating tropomyosin- and actin-binding sites (TMBS1, ABS1, TMBS2, and ABS2)...
May 9, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28490364/sporadic-late-onset-nemaline-myopathy-clinico-pathological-characteristics-and-review-of-76-cases
#2
REVIEW
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A Petersen, Thomas Tousseyn, Dietmar R Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y Van den Bergh, Jörg B Schulz, Joachim Weis, Kristl G Claeys
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS: We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966-2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases...
May 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28468212/craniofacial-manifestations-in-severe-nemaline-myopathy
#3
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...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28436394/sarcomere-dysfunction-in-nemaline-myopathy
#4
Josine M de Winter, Coen A C Ottenheijm
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as well, severely affected patients are ventilator-dependent. The mechanisms underlying muscle weakness in NM are currently poorly understood...
April 19, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28416349/cytoplasmic-body-pathology-in-severe-acta1-related-myopathy-in-the-absence-of-typical-nemaline-rods
#5
Sandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, Nathaniel Bradley, David Nguyen, Meganne E Leach, Payam Mohassel, Ying Hu, Mathula Thangarajh, Diana Bharucha-Goebel, Amanda Kan, Ronnie S L Ho, Christine A Reyes, Jessica Nance, Steven A Moore, A Reghan Foley, Carsten G Bönnemann
Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation. Patients 2 and 3 were twin boys with hypotonia, severe weakness, and respiratory insufficiency at birth requiring mechanical ventilation...
March 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#6
Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing
OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: Twenty-five patients were excluded because of atypical features or alternative etiologies...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28337097/neuromuscular-disease-mimicking-myasthenia-gravis-in-a-nigerian-female-adolescent-could-this-be-nemaline-rod-disease
#7
O A Oyinlade, I A Lagunju, B E Adebayo
BACKGROUND: Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. METHOD: We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy. RESULTS: Patient had a turbulent clinical course and finally succumbed to illness on the fifth day of admission...
December 2016: Annals of Ibadan Postgraduate Medicine
https://www.readbyqxmd.com/read/28268051/distal-myopathy-with-adssl1-mutations-in-korean-patients
#8
Hyung Jun Park, Ha Young Shin, Sungjun Kim, Se Hoon Kim, Yunbeom Lee, Jung Hwan Lee, Ji-Man Hong, Seung Min Kim, Kee Duk Park, Byung-Ok Choi, Ji Hyun Lee, Young-Chul Choi
To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and c.1220T>C mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28256693/-communication-and-language-problems-in-children-with-nemaline-myopathy
#9
J F Cervera-Merida, I Villa-Garcia, A Ygual-Fernandez
INTRODUCTION: Nemaline myopathy is a rare disease with an incidence of 1 in every 50,000 live births. It is the most prevalent of the congenital myopathies, a heterogeneous set of neuromuscular disorders present at birth or manifesting at a very early age, which affect the skeletal muscles and give rise to weakness, hypotonia and psychomotor retardation, although cognitive development remains normal. AIM: To review the studies conducted to date on the communication difficulties and dysphagia of children with nemaline myopathy and their possible management based on speech therapy...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#10
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...
March 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28182120/sagging-eye-syndrome-or-nemaline-rod-myopathy-divergence-insufficiency-with-levator-dehiscence-as-an-overlapping-symptom-between-two-diagnoses
#11
Stephanie S L Cheung, Larissa K Ghadiali, Thomas H Brannagan Iii, Gul Moonis, Phyllis L Faust, Jeffrey G Odel
A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/28134641/craniofacial-manifestations-in-severe-nemaline-myopathy
#12
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/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/27976420/myopathology-in-congenital-myopathies
#14
REVIEW
C A Sewry, C Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive 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...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#15
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish mutation (in relevant patients) was followed by next-generation sequencing and multiplex ligation-dependent probe amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#16
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
https://www.readbyqxmd.com/read/27890461/muscle-weakness-in-respiratory-and-peripheral-skeletal-muscles-in-a-mouse-model-for-nebulin-based-nemaline-myopathy
#17
Barbara Joureau, Josine M de Winter, Kelly Stam, Henk Granzier, Coen A C Ottenheijm
Nemaline myopathy is among the most common non-dystrophic congenital myopathies, and is characterized by the presence of nemaline rods in skeletal muscles fibers, general muscle weakness, and hypotonia. Although respiratory failure is the main cause of death in nemaline myopathy, only little is known regarding the contractile strength of the diaphragm, the main muscle of inspiration. To investigate diaphragm contractility, in the present study we took advantage of a mouse model for nebulin-based nemaline myopathy that we recently developed...
October 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27879346/a-zebrafish-model-for-a-human-myopathy-associated-with-mutation-of-the-unconventional-myosin-myo18b
#18
Ritika Gurung, Yosuke Ono, Sarah Baxendale, Samantha Lin Chiou Lee, Steven Moore, Meredith Calvert, Philip W Ingham
Myosin 18B is an unconventional myosin that has been implicated in tumor progression in humans. In addition, loss-of-function mutations of the MYO18B gene have recently been identified in several patients exhibiting symptoms of nemaline myopathy. In mouse, mutation of Myo18B results in early developmental arrest associated with cardiomyopathy, precluding analysis of its effects on skeletal muscle development. The zebrafish, frozen (fro) mutant was identified as one of a group of immotile mutants in the 1996 Tübingen genetic screen...
February 2017: Genetics
https://www.readbyqxmd.com/read/27790152/protein-structure-function-relationship-at-work-learning-from-myopathy-mutations-of-the-slow-skeletal-muscle-isoform-of-troponin-t
#19
REVIEW
Anupom Mondal, J-P Jin
Troponin T (TnT) is the sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles. A nonsense mutation in exon 11 of the slow skeletal muscle isoform of TnT (ssTnT) gene (TNNT1) was found in the Amish populations in Pennsylvania and Ohio. This single nucleotide substitution causes a truncation of the ssTnT protein at Glu(180) and the loss of the C-terminal tropomyosin (Tm)-binding site 2. As a consequence, it abolishes the myofilament integration of ssTnT and the loss of function causes an autosomal recessive nemaline myopathy (NM)...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27784483/-a-case-of-klhl40-mutation-related-nemaline-myopathy
#20
D Y Song, T Y Ji, X H Bao
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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