Results 31 to 40 of about 2,278 (204)

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies

Antioxidants, 2023
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez, Alejandra López-Cabrera, Mónica Álvarez-Córdoba, Paula Cilleros-Holgado, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, David Gómez-Fernández, Diana Reche-López, Ana Romero-González, José Manuel Romero-Domínguez, Rocío M. de Pablos, José A. Sánchez-Alcázar   +12 more
doaj   +1 more source

Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]

, 2014
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core   +1 more source

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

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

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. [PDF]

PLoS ONE, 2015
Congenital myopathies are rare skeletal muscle diseases presenting in early age with hypotonia and weakness often linked to a genetic defect. Mutations in the gene for cofilin-2 (CFL2) have been identified in several families as a cause of congenital ...
Sarah U Morton, Mugdha Joshi, Talia Savic, Alan H Beggs, Pankaj B Agrawal   +4 more
doaj   +1 more source

Congenital myopathies: The current status

Indian Journal of Pathology and Microbiology, 2022
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel, Carsten Dittmayer, Werner Stenzel   +2 more
doaj   +1 more source

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]

, 2015
Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH, Clarke, NF, Cooper, ST, de Winter, JM, Ilkovski, B, Klinge, L, Marston, SB, McNamara, E, Mokbel, N, North, KN, Nowak, KJ, Ottenheijm, CA, Ravenscroft, G, Rendu, J, Yuen, M   +14 more
core   +1 more source

Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source

Rare nemaline myopathy (a case report)

Гений oртопедии, 2022
Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin, Galina N. Filimonova, Oksana G. Prudnikova, Igor N. Mezentsev   +3 more
doaj   +1 more source

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2023
Background Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers.
Eiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, Mika Dozono, Tomonori Nakamura, Masakazu Tanaka, Ryuji Kubota, Akihiro Hashiguchi, Hiroshi Takashima   +8 more
doaj   +1 more source