Results 11 to 20 of about 69,426 (175)

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

Disease Models & Mechanisms, 2014
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres.
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie   +6 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

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   +2 more sources

Immunohistochemical Study of Rods in Nemaline Myopathy [PDF]

Immunohistochemical Study of Rods in Nemaline Myopathy
We used immunohistochemistry to study the expression of some proteins of the cytoskeleton (desmin and vimentin) and of the sarcomere (tropomyosin, myosin and actin), in muscle fibers of a patient with nemaline myopathy. Desmin, myosin and actin were present in the regions of rods but not vimentin.
52928, Alonso, Jose Luis, 52929, Calore, Edenilson Eduardo, Cavaliere, Maria Jose, Wakamatsu, Alda, 52931, 52932, 52930, Perez, Nilda Maria   +9 more
core   +3 more sources

Myeloma-Associated Sporadic Late-Onset Nemaline Myopathy, Successfully Treated with Daratumumab Based Induction and Autologous Stem Cell Transplantation: A Case Report. [PDF]

EJHaem
ABSTRACT Sporadic late‐onset nemaline myopathy (SLONM) is a rare, acquired myopathy often associated with monoclonal gammopathy. We report a 48‐year‐old man presenting with progressive proximal and truncal muscle weakness in whom SLONM associated with smoldering myeloma was highly suspected.
Moriwaki K, Kawano Y, Nakajima M, Nishimura N, Ueda M, Yasunaga JI.   +5 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

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods. [PDF]

Neuromuscul Disord, 2017
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.
Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG.   +16 more
europepmc   +2 more sources

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
ABSTRACT Background Monoclonal gammopathy‐associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late‐onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
europepmc   +2 more sources

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

Hum Mutat
Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod‐like structures on the muscle biopsy, or a mix of rods with cores, focal areas with disorganization of oxidative activity. Pathogenic variants in the NEB
de Feraudy Y, Maino A, Boedec M, Lornage X, Romero NB, Monges S, Lubieniecki F, Foncuberta ME, Tard C, Maurage CA, Csanyi M, Marcorelles P, Stojkovic T, Feasson L, Fradin M, Gousse G, Laugel V, Masingue M, Nadaj-Pakleza A, Bevilacqua JA, Neb Study Group, Rendu J, Bohm J, Biancalana V, Laporte J.   +24 more
europepmc   +2 more sources