Results 61 to 70 of about 28,319 (230)

カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources

Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary, Meghan McAnally, Sandra Donkervoort, Carsten G. Bönnemann   +3 more
wiley   +1 more source

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala

Annals of Indian Academy of Neurology
Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of ...
Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan   +4 more
doaj   +1 more source

Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report

Arquivos de Neuro-Psiquiatria, 2005
A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta.
Rosana Hermínia Scola, Alcides Trentin Jr, Rodrigo Vaez, Vinicius de Faria Gignon, Thaís Gurgel Costa, Lineu Cesar Werneck   +5 more
doaj   +1 more source

Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]

Neurology India, 2008
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V., Nonaka, Ikuya   +1 more
openaire   +2 more sources

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

Muscle Ultrasound in Inclusion Body Myositis: Integrating Qualitative and Quantitative Approaches With Clinical and MRI Findings

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Inclusion body myositis (IBM) is an inflammatory myopathy with an insidious onset, often making diagnosis challenging. Although neuroimaging has recently been included in diagnostic criteria, the role of muscle ultrasound—despite being a rapid and cost‐effective tool—in IBM has been less extensively characterized.
Giuseppe Di Pietro, Pietro Falco, Rocco Costanzo, Eleonora Galosi, Gianfranco De Stefano, Enrico Evangelisti, Antonio Lauletta, Caterina Leone, Daniel Litewczuk, Giulia Di Stefano, Andrea Truini, Matteo Garibaldi   +11 more
wiley   +1 more source

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. [PDF]

, 2020
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic.
Anderson, Kendall J, Clark, Leigh Anne, Evans, Jacquelyn M, Guo, Ling T, Knipe, Marguerite, Shelton, G Diane, Sturges, Beverly K, Tsai, Kate L, Vernau, Karen M, Williams, D Colette, Winger, Kathryn, Zwueste, Danielle M   +11 more
core  

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources