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Year Number of Results
1977 1
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1985 1
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1992 1
1993 3
1994 3
1995 1
1996 3
1998 1
1999 1
2000 2
2001 3
2002 4
2003 1
2004 3
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2006 4
2007 5
2008 3
2009 4
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147 results

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Page 1
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Amburgey K, et al. Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. Orphanet J Rare Dis. 2013. PMID: 23919265 Free PMC article.
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns …
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopa …
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and ultrastructural characteristics compared to the other core diseases. DuCD muscle biopsies also showed nuclear centralization and type1 fibre …
We named Dusty Core Disease (DuCD) the corresponding entity of congenital myopathy. Dusty cores had peculiar histological and …
Recent advances in understanding congenital myopathies.
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Ravenscroft G, et al. F1000Res. 2018 Dec 11;7:F1000 Faculty Rev-1921. doi: 10.12688/f1000research.16422.1. eCollection 2018. F1000Res. 2018. PMID: 30631434 Free PMC article. Review.
By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. ...Thus, the congenital myopathy genes remaining to be discovered are predicted to be extremely rare causes of disease, which greatly ham …
By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. ...Thus, the co …
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
Muscle biopsy showed multi-minicores and type I fibre predominance with internalised nuclei. CONCLUSION: FXR1-related congenital myopathy is an emerging entity that is clinically recognisable. ...Our work broadens the phenotypic spectrum of FXR1-related congenita …
Muscle biopsy showed multi-minicores and type I fibre predominance with internalised nuclei. CONCLUSION: FXR1-related congenital m …
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. ...Clinically, the "typical" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed …
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. ...Clinic …
Congenital myopathies in adults: A diagnosis not to overlook.
Pinto MJ, Passos BA, Grangeia A, Guimarães J, Braz L. Pinto MJ, et al. Acta Neurol Scand. 2022 Aug;146(2):152-159. doi: 10.1111/ane.13632. Epub 2022 May 12. Acta Neurol Scand. 2022. PMID: 35548885
OBJECTIVES: To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize the subgroup of adult-diagnosed patients. MATERIALS AND METHODS: We performed a retrospective observational cohort study to characte …
OBJECTIVES: To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize …
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Y, Čajbiková NN, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A. Muravyev A, et al. Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5. Orphanet J Rare Dis. 2022. PMID: 36104822 Free PMC article.
They include early-onset restrictive cardiomyopathy (RCM) in association with congenital myopathy. In all patients the initial diagnosis was established during the first year of life and in five out of twelve (41.7%) patients the first symptoms were observed …
They include early-onset restrictive cardiomyopathy (RCM) in association with congenital myopathy. In all patients the initial …
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U. Özsoy Ö, et al. Acta Neurol Belg. 2023 Dec;123(6):2325-2335. doi: 10.1007/s13760-023-02370-3. Epub 2023 Sep 1. Acta Neurol Belg. 2023. PMID: 37656362
BACKGROUND: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an au …
BACKGROUND: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synapt …
Clinical approach to the diagnosis of congenital myopathies.
North KN. North KN. Semin Pediatr Neurol. 2011 Dec;18(4):216-20. doi: 10.1016/j.spen.2011.10.002. Semin Pediatr Neurol. 2011. PMID: 22172416 Review.
This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congen …
This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congeni …
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of muscle fibers. ...Overall, 23 muscle biopsies were reviewed; a majority of patients had >20% central nuclei, fiber type 1 predominance, …
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of …
147 results