Results 71 to 80 of about 1,216 (116)

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
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 ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Clinical heterogeneity in Korean patients with nemaline myopathy [PDF]

, 2010
PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers.
선우일남, 최영철, 홍지만, 김승민, 김태승, 김세훈   +5 more
core   +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

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

, 2008
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis ...
Coons, Stephen, Sivakumar, Kumaraswamy, Bien-Wilner, Ricardo, Johnsen, Stanley, Sambuughin, Nyamkhishig, Ladha, Shafeeq S.   +5 more
core   +1 more source

Skeletal muscle repair in a mouse model of nemaline myopathy [PDF]

, 2006
Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available.
Sanoudou, D., Nguyen, M.-A.T., Han, M., Beggs, A.H., Hardeman, E.C., Corbett, M.A., Vlahovich, N., Ghoddusi, M.   +7 more
core   +1 more source

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

Congenital myopathies 1 – Nemaline

, 2020
Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia (WA) in the 1960s and 70s.
Conijn, S., Groth, D., Ravenscroft, G., Muthsam, K., Testa, A., Coote, D., Laing, N., Taylor, R., Goullee, H., O'Hara, M., Musk, G., Ottenheijm, C., McNamara, E., Nowak, K., Clayton, J., Kijas, J.   +15 more
core  

Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function

Skeletal Muscle, 2020
Background Nebulin is a critical thin filament-binding protein that spans from the Z-disk of the skeletal muscle sarcomere to near the pointed end of the thin filament.
Frank Li, Justin Kolb, Julie Crudele, Paola Tonino, Zaynab Hourani, John E. Smith, Jeffrey S. Chamberlain, Henk Granzier   +7 more
doaj   +1 more source

Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate

, 2019
Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy.
Bidev, Duygu, Oncel, Mehmet Y., TALİM, BERİL, Oguz, Serife S., Sahin, Suzan, Okur, Nilufer   +5 more
core   +1 more source

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach

Respiratory Medicine Case Reports
Background: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in ...
Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio   +2 more
doaj   +1 more source