Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

Authors: de Feraudy, Yvan^1,2,3 (AUTHOR), Vandroux, Marie¹ (AUTHOR), Romero, Norma Beatriz⁴ (AUTHOR), Schneider, Raphaël¹ (AUTHOR), Saker, Safaa⁵ (AUTHOR), Boland, Anne⁶ (AUTHOR), Deleuze, Jean-François⁶ (AUTHOR), Biancalana, Valérie^1,7 (AUTHOR), Böhm, Johann¹ (AUTHOR), Laporte, Jocelyn¹ (AUTHOR) jocelyn@igbmc.fr

Source: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.

Subject Terms: *MUSCLE diseases, *NEMALINE myopathy, *GENETIC disorders, *GENETIC counseling, *PATIENT autonomy, *EXOMES

Sporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.

Authors: Narwal, Anubhav¹ (AUTHOR), Mann, Mohit² (AUTHOR), Srivastava, Achal K² (AUTHOR), Sharma, Mehar C¹ (AUTHOR) sharmamehar@yahoo.co.in

Source: Neurology India. Nov/Dec2024, Vol. 72 Issue 6, p1270-1272. 3p.

Subject Terms: *NEMALINE myopathy, *MUSCLE weakness, *MUSCULAR atrophy, *TREATMENT failure, *MUSCLE diseases

Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families.

Authors: Etarhuni, Samira¹ (AUTHOR) samiraracd@yahoo.com, Kara, Majdi² (AUTHOR), Alghazir, Nadia³ (AUTHOR)

Source: Ibnosina Journal of Medicine & Biomedical Sciences. Jun2024, Vol. 16 Issue 2, p77-84. 8p.

Subject Terms: *GENETIC mutation, *NEMALINE myopathy, *MALIGNANT hyperthermia, *DELAYED diagnosis, *GENETIC counseling, *CRYPTORCHISM

Trilobatin contributes to the improvement of myopathy in a mouse model of Duchenne muscular dystrophy.

Authors: Hermes, Túlio de Almeida¹ (AUTHOR) tulio.ah13@gmail.com, Fratini, Paula² (AUTHOR), Nascimento, Beatriz Godinho¹ (AUTHOR), Ferreira, Laís Leite¹ (AUTHOR), Petri, Giuliana² (AUTHOR), Fonseca, Fernando Luiz Affonso³ (AUTHOR), Carvalho, Alzira Alves de Siqueira⁴ (AUTHOR), Feder, David² (AUTHOR)

Source: International Journal of Experimental Pathology. Apr2024, Vol. 105 Issue 2, p75-85. 11p.

Subject Terms: *DUCHENNE muscular dystrophy, *NEMALINE myopathy, *TIBIALIS anterior, *LABORATORY mice, *ANIMAL disease models, *MUSCLE strength, *CREATINE kinase

On Neuromuscular Disease Detection from Electromyograms using Convolutional and Recurrent Neural Networks

Authors: Boutellaa, Elhocine, Benakcha, Iheb Chaker, Hadid, Abdenour

Source: 2024 7th International Conference on Signal Processing and Information Security (ICSPIS) Signal Processing and Information Security (ICSPIS), 2024 7th International Conference on. :1-5 Nov, 2024

Relation: 2024 7th International Conference on Signal Processing and Information Security (ICSPIS)

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

Authors: Nóbrega, Paulo Ribeiro^1,2,3 (AUTHOR) paulo_r_med@yahoo.com.br, de Brito de Souza, Jorge Luiz⁴ (AUTHOR), Maurício, Rebeca Bessa⁴ (AUTHOR), de Paiva, Anderson Rodrigues Brandão^2,5 (AUTHOR), Dias, Daniel Aguiar⁶ (AUTHOR), Camelo, Clara Gontijo² (AUTHOR), Zanotelli, Edmar² (AUTHOR), Schlesinger, David⁵ (AUTHOR), Braga-Neto, Pedro^1,4 (AUTHOR), Moreno, Cristiane Araujo Martins^2,5 (AUTHOR)

Source: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p1225-1231. 7p.

Subject Terms: *NEMALINE myopathy, *DAS-Naglieri Cognitive Assessment System, *CENTRAL nervous system, *CORPUS callosum, *AUTISM spectrum disorders

Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.

Authors: Du, Hongjia^1,2 (AUTHOR), Chen, Yan^1,3 (AUTHOR), Zeng, Li⁴ (AUTHOR), Wu, Rui^1,3 (AUTHOR), Wu, Tong^1,3 (AUTHOR) wmenu@sina.com, Zhu, Jing^1,3 (AUTHOR) zhujingys@sina.com

Source: International Journal of Rheumatic Diseases. Feb2024, Vol. 27 Issue 2, p1-5. 5p.

Subject Terms: *MUSCLE diseases, *NEMALINE myopathy, *MYOCARDIUM, *CELLULAR inclusions, *GENETIC testing, *GENETIC mutation

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Authors: Decio, Alice¹ (AUTHOR) alice.decio@lanostrafamiglia.it, Giorda, Roberto² (AUTHOR), Panzeri, Elena² (AUTHOR), Bassi, Maria Teresa² (AUTHOR), D'Angelo, Maria Grazia¹ (AUTHOR)

Source: Neurological Sciences. Feb2024, Vol. 45 Issue 2, p819-823. 5p.

Subject Terms: *NEMALINE myopathy, *NUCLEOTIDE sequencing, *MUSCLE diseases, *PHENOTYPES, *SPINAL muscular atrophy, *DIAGNOSIS

Peripheral thickening of the sarcomeres and pointed end elongation of the thin filaments are both promoted by SALS and its formin interaction partners.

Authors: Farkas, Dávid¹ (AUTHOR), Szikora, Szilárd¹ (AUTHOR), Jijumon, A. S.¹ (AUTHOR), Polgár, Tamás F.^2,3 (AUTHOR), Patai, Roland² (AUTHOR), Tóth, Mónika Ágnes⁴ (AUTHOR), Bugyi, Beáta⁴ (AUTHOR), Gajdos, Tamás⁵ (AUTHOR), Bíró, Péter⁵ (AUTHOR), Novák, Tibor⁵ (AUTHOR), Erdélyi, Miklós⁵ (AUTHOR), Mihály, József^1,6 (AUTHOR) mihaly.jozsef@brc.hu

Source: PLoS Genetics. 1/10/2024, Vol. 20 Issue 1, p1-31. 31p.

Subject Terms: *SARCOMERES, *NEMALINE myopathy, *MUSCLE growth, *STRIATED muscle, *MUSCLE strength, *SMALL molecules

Centronuclear myopathy with a novel variant (p.Asp646Tyr) in the DNM2 gene exhibits mild clinical manifestations: A case report.

Authors: Youngho Kim¹, Mi Hee Kwack², Jong-Mok Lee^1,3 azulmar@gmail.com

Source: Neurology Asia. 2023, Vol. 28 Issue 4, p1069-1072. 4p.

Subject Terms: *NEMALINE myopathy, *SYMPTOMS, *GENETIC variation, *MUSCLE diseases, *NUCLEOTIDE sequencing, *GENES

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.

Authors: Lehtokari, Vilma-Lotta^1,2 (AUTHOR) vilma.lehtokari@helsinki.fi, Similä, Minna³ (AUTHOR), Tammepuu, Marianne⁴ (AUTHOR), Wallgren-Pettersson, Carina^1,2 (AUTHOR), Strang-Karlsson, Sonja⁵ (AUTHOR), Hiekkala, Sinikka⁶ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/30/2023, Vol. 18 Issue 1, p1-12. 12p.

Subject Terms: *NEMALINE myopathy, *PILOT projects, *CONGENITAL disorders, *SOCIAL skills, *INFORMATION measurement

Geographic Terms: FINLAND

Reviews & Products: INTERNATIONAL Classification of Functioning, Disability & Health

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.

Authors: Robaszkiewicz, Katarzyna¹ (AUTHOR) robkat@ukw.edu.pl, Siatkowska, Małgorzata¹ (AUTHOR) gosia.sl@ukw.edu.pl, Wadman, Renske I.² (AUTHOR) r.i.wadman@umcutrecht.nl, Kamsteeg, Erik-Jan³ (AUTHOR) erik-jan.kamsteeg@radboudumc.nl, Chen, Zhiyong^4,5 (AUTHOR) zhiyong.chen@nhs.net, Merve, Ashirwad⁶ (AUTHOR) amerve@nhs.not, Parton, Matthew⁴ (AUTHOR) matt.parton@nhs.net, Bugiardini, Enrico⁴ (AUTHOR) e.bugardini@ucl.ac.uk, de Bie, Charlotte⁷ (AUTHOR) c.i.debie-2@umcutrecht.nl, Moraczewska, Joanna¹ (AUTHOR) joanna.moraczewska@ukw.edu.pl

Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16147. 15p.

Subject Terms: *NEMALINE myopathy, *MUSCLE weakness, *MYOSIN, *ACHILLES tendon, *PHENOTYPES, *SKELETAL muscle, *MOLECULAR interactions

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.

Authors: Marotto, Daniela¹ (AUTHOR) daniela.marotto@tiscali.it, Moschetti, Marta² (AUTHOR) marta.moschetti@irib.cnr.it, Lo Curto, Alessia² (AUTHOR) alessia.locurto@irib.cnr.it, Spezzigu, Anna M.¹ (AUTHOR) annamaria.spezzigu@aslgallura.it, Giacomarra, Miriam² (AUTHOR) miriam.giacomarra@irib.cnr.it, Marsana, Emanuela M.² (AUTHOR) emanuelamaria.marsana@irib.cnr.it, Zizzo, Carmela² (AUTHOR) carmela.zizzo@irib.cnr.it, Duro, Giovanni² (AUTHOR) giovanni.duro@irib.cnr.it, Colomba, Paolo² (AUTHOR) paolo.colomba@irib.cnr.it

Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15924. 8p.

Subject Terms: *GLYCOGEN storage disease type II, *NEMALINE myopathy, *POLYNEUROPATHIES, *CHRONIC inflammatory demyelinating polyradiculoneuropathy, *MUSCLE weakness, *ENZYME deficiency, *SYMPTOMS, *BLOOD coagulation factor XIII

Geographic Terms: ITALY

Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force.

Authors: Lindqvist, Johan¹ (AUTHOR) johanlindqvist@email.arizona.edu, Granzier, Henk¹ (AUTHOR) granzier@arizona.edu

Source: International Journal of Molecular Sciences. Oct2023, Vol. 24 Issue 20, p15124. 15p.

Subject Terms: *NEMALINE myopathy, *MYOSTATIN, *LABORATORY mice, *MUSCLE weakness, *ANIMAL disease models, *GRIP strength

Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations.

Authors: Sonne, Alexander¹ (AUTHOR), Antonovic, Anna Katarina² (AUTHOR), Melhedegaard, Elise¹ (AUTHOR), Akter, Fariha² (AUTHOR), Andersen, Jesper L.^3,4 (AUTHOR), Jungbluth, Heinz^5,6 (AUTHOR), Witting, Nanna⁷ (AUTHOR), Vissing, John⁷ (AUTHOR), Zanoteli, Edmar⁸ (AUTHOR), Fornili, Arianna² (AUTHOR), Ochala, Julien¹ (AUTHOR) julien.ochala@sund.ku.dk

Source: Acta Physiologica. Oct2023, Vol. 239 Issue 2, p1-14. 14p. 2 Charts, 6 Graphs.

Subject Terms: *NEMALINE myopathy, *MYOSIN, *CONTRACTILE proteins, *RYANODINE receptors, *CONGENITAL disorders, *SKELETAL muscle, *POST-translational modification, *VENTRICULAR remodeling

Filamin protects myofibrils from contractile damage through changes in its mechanosensory region.

Authors: Fisher, Lucas A. B.¹, Carriquí-Madroñal, Belén², Mulder, Tiara³, Huelsmann, Sven², Schöck, Frieder¹, nicanor.gonzalez@dal.ca, González-Morales, Nicanor³, nicanor.gonzalez@dal.ca

Source: PLoS Genetics; 6/21/2024, Vol. 20 Issue 6, p1-21, 21p

Successful heart transplant in a child with congenital core myopathy and delayed‐onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.

Authors: Wacker, Julie^1,2 (AUTHOR) julie.wacker@hcuge.ch, Di Bernardo, Stefano^2,3 (AUTHOR), Lobrinus, Johannes Alexander⁴ (AUTHOR), Jungbluth, Heinz^5,6 (AUTHOR), Gautel, Mathias⁶ (AUTHOR), Beghetti, Maurice^1,2 (AUTHOR), Fluss, Joel⁷ (AUTHOR)

Source: Pediatric Transplantation. Sep2023, Vol. 27 Issue 6, p1-4. 4p.

Subject Terms: *NEMALINE myopathy, *HEART transplantation, *CONNECTIN, *CARDIOMYOPATHIES, *DILATED cardiomyopathy, *MUSCLE diseases

A centronuclear myopathy‐causing mutation in dynamin‐2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.

Authors: Arriagada‐Diaz, Jorge^1,2 (AUTHOR), Flores‐Muñoz, Carolina¹ (AUTHOR), Gómez‐Soto, Bárbara^1,3 (AUTHOR), Labraña‐Allende, Marjorie^1,3 (AUTHOR), Mattar‐Araos, Michelle¹ (AUTHOR), Prado‐Vega, Lorena^1,2 (AUTHOR), Hinostroza, Fernando^4,5,6 (AUTHOR), Gajardo, Ivana⁷ (AUTHOR), Guerra‐Fernández, María José¹ (AUTHOR), Bevilacqua, Jorge A.⁸ (AUTHOR), Cárdenas, Ana M.¹ (AUTHOR), Bitoun, Marc⁹ (AUTHOR), Ardiles, Alvaro O.^1,10,11 (AUTHOR) alvaro.ardiles@uv.cl, Gonzalez‐Jamett, Arlek M.^1,12 (AUTHOR) arlek.gonzalez@uv.cl

Source: Neuropathology & Applied Neurobiology. Aug2023, Vol. 49 Issue 4, p1-17. 17p.

Subject Terms: *NEMALINE myopathy, *DENDRITIC spines, *NEURAL transmission, *CENTRAL nervous system, *MORPHOLOGY, *MEDICAL model, *RNA interference, *RECESSIVE genes, *THETA rhythm

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Authors: Gomes, Gustavo Rodrigues Ferreira¹ (AUTHOR) gustavo_r_f_gomes@hotmail.com, Mariano, Tamiris Carneiro² (AUTHOR) dratamirismariano@gmail.com, Braga, Vitor Lucas Lopes² (AUTHOR) vitorlucas.vlb@gmail.com, Ribeiro, Erlane Marques^2,3 (AUTHOR) erlaneribeiro@yahoo.com.br, Guimarães, Ingred Pimentel¹ (AUTHOR) ingredpguimaraes@gmail.com, Pereira, Késia Sindy Alves Ferreira¹ (AUTHOR) kesiasindy@gmail.com, Nóbrega, Paulo Ribeiro^3,4 (AUTHOR), Pessoa, André Luiz Santos^1,2 (AUTHOR) andrepessoa10@yahoo.com.br

Source: Brain Sciences (2076-3425). Aug2023, Vol. 13 Issue 8, p1184. 7p.

Subject Terms: *NEMALINE myopathy, *MALIGNANT hyperthermia, *MUSCLE diseases, *MISSENSE mutation, *SHORT stature, *CLEFT palate, *NATIVE Americans

Geographic Terms: BRAZIL

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus.

Authors: Balasundaram, Palanikumar¹ (AUTHOR), Avulakunta, Indirapriya Darshini¹ (AUTHOR), Delfiner, Leslie² (AUTHOR), Levy, Paul³ (AUTHOR), Forman, Katie R.¹ (AUTHOR)

Source: Case Reports in Genetics. 7/18/2023, p1-4. 4p.

Subject Terms: *NEMALINE myopathy, *HYDROCEPHALUS, *MUSCLE diseases, *MYOCARDIUM, *CONNECTIVE tissues, *CONNECTIN