Results 31 to 40 of about 4,222 (202)

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2019
Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder   +6 more
doaj   +1 more source

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Respiratory treatment in a patient with nemaline myopathy

Clinics and Practice, 2019
Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy ...
Massimiliano Polastri, Gioacchino Schifino, Eva Tonveronachi, Francesco Tavalazzi   +3 more
doaj   +1 more source

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung   +17 more
doaj   +1 more source

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy [PDF]

, 2014
Peer ...
Adele D’Amico, Agrawal, Alan H. Beggs, Alla S. Kostyukova, Anders Flisberg, Ann E. Davidson, Annie Laquerrière, Biljana Ilkovski, Brett P. Thomas, Carina Wallgren-Pettersson, Carol C. Gregorio, Carsten G. Bönnemann, Catherine A. Brownstein, Chereau, Christopher T. Pappas, Coen A.C. Ottenheijm, Cooper, Daniel G. MacArthur, Darcée D. Sloboda, David Chitayat, David P. Bick, David S. Gokhin, de Winter, Edoardo Malfatti, Emily J. Todd, Enrico Bertini, Eva Holmberg, Flora Nolent, Gianina Ravenscroft, Gokhin, Granzier, Greenfield, Ichizo Nishino, James J. Dowling, Judith Melki, Jérome Maluenda, Katarina Pelin, Kate G. Quinlan, Kathryn N. North, Kostyukova, Kouyama, Leigh B. Waddell, Lindsay C. Swanson, Livija Medne, Majczenko, Mark J. Daly, Menezes, Michaela Yuen, Monkol Lek, Namrata Gupta, Nanda, Natalia Moroz, Nicole Martin, Nigel F. Clarke, Nigel G. Laing, Norma B. Romero, Ozge Ceyhan-Birsoy, Pablo Lapunzina, Patrick Shannon, Peter J. Houweling, Peter Van den Bergh, Ravenscroft, Ryan, Sarah A. Sandaradura, Sloboda, Stacey B. Gabriel, Stefanie M. Novak, Telfer, Tsukada, Vandana A. Gupta, Velia M. Fowler, Vilma-Lotta Lehtokari, William R. Telfer, Yukiko K. Hayashi   +73 more
core   +1 more source

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]

, 2013
The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M, Lehman, W, Li, X, Marston, S, McNamara, E, Memo, M, Messer, A, Nowak, K, Ong, R, Papadaki, M   +9 more
core   +1 more source

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability

European Journal of Translational Myology, 2020
Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy.
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler   +4 more
doaj   +1 more source

Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes [PDF]

, 2007
Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Bathe Friederike S, Machesky Laura M, Rommelaere Heidi   +2 more
core   +3 more sources

A Nemaline Myopathy Presenting with Perinatal Asphyxia

Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2015
Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan, Dilek Dilli, Nihan Hilal Hoșağası, Beril Talim, Engin Demir, Ayșe Aksoy, Ayșegül Zenciroğlu, Nurullah Okumuș   +7 more
doaj   +1 more source