Results 21 to 30 of about 3,537,976 (165)

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands [PDF]

Neuromuscular Disorders, 2011
This international ENMC workshop assembled 18 clinicians and scientists from Europe, the United States of America, South America, Japan and Australia to discuss “Rare Structural Congenital Myopathies (CM)”. This workshop can be considered a follow-up to an earlier one [1], then and now excluding classical CM on which separate workshops have repeatedly ...
Goebel HH, Bönnemann CG, Rare Structural Myopathy Consortium (Bertini E, Bonnemann CG, Boersen A, Clarke N, Goebel HH, Figarella Branger D, Hubner A, Holton JL, Kirshner J, Lammens M, Moore S, Nonaka I, Olive’ M, PEGORARO, ELENA, Polvikoski T, Schessl J, Sewry C, Taratuto AL   +19 more
openaire   +4 more sources

Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2) [PDF]

Archives of Neurology, 2007
To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness.
Homa, Tajsharghi, Monica, Ohlsson, Christopher, Lindberg, Anders, Oldfors   +3 more
openaire   +2 more sources

Approach to the diagnosis of congenital myopathies [PDF]

, 2014
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is ...
Bönnemann, Carsten G., Amburgey, Kimberly, Beggs, Alan H., North, Kathryn N., Boennemann, Carsten G., Laing, Nigel G., Wang, Ching H., Jungbluth, Heinz; id_orcid, ?, ?, Bonnemann, Cartsen G., North, Kahtyen N., Quijano-Roy, Susana, Clarke, Nigel, Jungbluth, Heinz, Biancalana, Valérie, Vainzof, Mariz, Dowling, James J., Sewry, Caroline   +17 more
core   +1 more source

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report

Italian Journal of Pediatrics, 2019
Background Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the
Itaru Hayakawa, Yuichi Abe, Hiroshi Ono, Masaya Kubota   +3 more
doaj   +1 more source

Congenital myopathies: an update

, 2020
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases that are defined by architectural abnormalities in the muscle fibres.
Claeys, Kristl G.
core   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

ACTA1 gene regulation in livestock: A multidimensional review on muscle development, meat quality, and genetic applications [PDF]

Veterinary World
Background and Aim: The skeletal muscle α-actin gene (ACTA1) plays a pivotal role in muscle contraction, structural integrity, and overall develop­ment of skeletal muscle tissue in livestock.
Siti Rani Ayuti, Sangsu Shin, Eun Joong Kim, Mirni Lamid, Sunaryo Hadi Warsito, Mohammad Anam Al Arif, Widya Paramita Lokapirnasari, Zulfi Nur Amrina Rosyada, Aswin Rafif Khairullah, Muslim Akmal, Mudhita Zikkrullah Ritonga, Rimayanti Rimayanti, Mira Delima   +12 more
doaj   +1 more source

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]

, 2010
Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group, Martin, N, Lucy R. Wedderburn, Sally Smith, Davidson, J.E., Wedderburn, L.R., Smith, S., Neil Martin, Pilkington, C.A., Gardner-Medwin, J. [JD Research Group], Joyce E. Davidson, Krol, P., Petra Krol, Murray, K., Kevin Murray, Clarissa A. Pilkington   +15 more
core   +1 more source