Results 11 to 20 of about 15,356 (198)

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
doaj   +3 more sources

Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Acta Neuropathologica Communications, 2023
Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy.
Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone   +7 more
doaj   +2 more sources

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj   +1 more source

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy [PDF]

Acta Neuropathologica Communications, 2018
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson   +5 more
doaj   +2 more sources

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8. [PDF]

Mol Genet Genomic Med
This finding may broaden the pathogenic variant of c.1327G> A in the KLHL40 gene causing NEM8 and clarify the genotype and phenotype correlation. ABSTRACT Background Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the ...
Zhuang J, Hong M, Huang Q, Jiang Y, Wang J.   +4 more
europepmc   +2 more sources

Successful Bortezomib-Lenalidomide-Dexamethasone Therapy in a 72-Year-Old Patient With Sporadic Late-Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance. [PDF]

Muscle Nerve
Muscle &Nerve, Volume 74, Issue 3, Page 756-758, September 2026.
Komatsu H, Komaki S, Maeda M, Kubota A, Yuasa M, Kurokawa M, Morishima R, Uruha S, Uruha A, Nishino I, Hamada M, Toda T, Satake W.   +12 more
europepmc   +2 more sources

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +2 more sources

Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy

Frontiers in Cardiovascular Medicine, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Diana Maria Ronderos-Botero, Arundhati Dileep, Laura Yapor, Ravish Singhal   +3 more
doaj   +1 more source

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

Frontiers in Genetics, 2023
NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c ...
Yuefang Liu, Juan Xu, Qiaoyi Lv, Zhe Liang, Lingling Li, Qiong Pan   +5 more
doaj   +1 more source