Results 51 to 60 of about 314,455 (204)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Arthrogenic Alphaviruses and Inflammatory Myopathies [PDF]

, 2011
There is increasing evidence to suggest that viruses have aetiological roles in the idiopathic inflammatory myopathies. Arthrogenic alphaviruses (such as chikungunya virus, Ross River virus and sindbis virus) are known to cause outbreaks of polyarthritis
Suresh Mahalingam, Mahalingam, Suresh, Lara Herrero, Herrero, Lara   +3 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Serum levels of matrix metalloproteinases-2 and-9 and their tissue inhibitors in inflammatory neuromuscular disorders [PDF]

, 2006
We monitored serum levels of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) before and during intravenously applied immunoglobulin (IVIG) therapy in 33 patients with chronic immune-mediated neuropathies and myopathies and 15 ...
Mueller-Felber, W., Schoser, B. G. H., Hurnaus, S., Pongratz, D.   +3 more
core   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source

A Case of Flaccid Quadriparesis

Indian Journal of Medical Specialities, 2019
Inclusion body myositis (IBM) is the most common inflammatory myopathy above the age of 50 years and three times more common in males than females. It presents as a distal more than proximal myopathy and has an indolent progressive course.
Kashish Gupta, Subhash Kumar, Narendra Bishnoi, Mayank Gupta, Sunil Kumar Mahavar, Raman Sharma   +5 more
doaj   +1 more source

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures

Molecular Genetics & Genomic Medicine
Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families ...
Hui Wang, Ting Zhang, Yanming Xu, Wenhui Fan   +3 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