Results 91 to 100 of about 1,662 (201)

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene [PDF]

, 2019
We report the first family with a dominantly inherited mutation of the nebulin gene (NEB). This 100kb in-frame deletion encompasses NEB exons 14-89, causing distal nemaline/cap myopathy in a three-generation family.
Hackman, Peter B., Udd, Bjarne, Evilä, Anni E., Kiiski, Kirsi J., Wallgren-Pettersson, Carina, Sewry, Caroline A., Vihola, Anna K., Sagath, Lydia J., Pelin, Katarina B., Laitila, Jenni M., Paetau, Anders E., Huovinen, Sanna, Lehtokari, Vilma-Lotta   +12 more
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The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

, 2000
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants
Morton, D. Holmes, Biesecker, Leslie G., Agarwala, Richa, Schäffer, Alejandro A., Kelley, Richard I., Francomano, Clair A., Johnston, Jennifer J., Koch, Thorsten, Crawford, Thomas O.   +8 more
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Myopathology of Congenital Myopathies: Bridging the Old and the New [PDF]

, 2019
Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally ...
Phadke, R
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Sarcomere Dysfunction in Nemaline Myopathy

, 2017
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients
de Winter, Josine M, Ottenheijm, Coen A C   +1 more
core   +1 more source

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

, 2003
The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle.
Muller, C. R., Oley, C., Muller, C., Kuntzer, T., Bankier, A., Tomlinson, P., Nagarajan, L., Quinlivan, R., Lamont, P., Laing, N. G., Davis, M.R., Muntoni, F., Jungbluth, H., Sewry, C., Colley, A., North, K., Jungbluth, H.; id_orcid, James, D., Walsh, P., Gedeon, A., Dixon, J., Davis, M., Sanchez, A., Haan, E., et al.   +24 more
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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

, 1995
Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of −actinin and actin.
Boundy, K., Laing, N., Chris Kneebone, Sue White, Blumbergs, P., Wilton, S.D., Kneebone, C., Hugh Watkins, Patrick A. Akkari, Akkari, P., Nigel G. Laing, Love, D., Love, D.R., Laing, N.G., Eric Haan, Wilton, S., Dorosz, S., Karyn Boundy, Akkari, P.A., Stephen D. Wilton, White, S., Shellie Dorosz, Haan, E., Peter Blumbergs, Donald R. Love, Watkins, H.   +25 more
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In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy [PDF]

, 1999
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament.
Laing, N.G., Bang, M-L, Beggs, A.H., Hilpela, P., Centner, T., de la Chapelle, A., Wilton, S.D., Fardeau, M., Wattanasirichaigoon, D., Odent, S., Akkari, P.A., Dubowitz, V., Muntoni, F., Sewry, C., Hanefeld, F., Pelin, K., Labeit, S., Donner, K., Urtizberea, J.A., Wallgren-Pettersson, C.   +19 more
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