Myotubular Myopathy RSS Page 10

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Total 11221 results found since Jan 2013.

Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration Data-Based Study
CONCLUSIONS: The 10-year PRs of hereditary polyneuropathies, HD, MG, and inherited muscle diseases in young South Korean males have been reported. These data could be valuable to understanding each neuromuscular disease in the young male population of South Korea.PMID:37455505 | DOI:10.3988/jcn.2022.0261
Source: Journal of Clinical Neurology - July 17, 2023 Category: Neurology Authors: Kyoung-Eun Kim Eun Jin Kim Kwangdong Kim Jaechan Park Chul Jung Jae-Hyun Yun Kihun Son Source Type: research

Inflammatory myopathy in adults, health-related quality of life, and wellbeing: A round trip between immune disease and wellness
Expert Rev Clin Immunol. 2023 Jul 15. doi: 10.1080/1744666X.2023.2238128. Online ahead of print.ABSTRACTINTRODUCTION: Health-related quality of life (HRQoL) and wellbeing are poorer in patients with chronic conditions than in the general population, and this is the case of individuals with myositis. Research has shown a negative relationship between this disease and wellbeing, but there is little data on the effect that enhanced wellbeing has on the disease course.AREAS COVERED: HRQoL, wellbeing, and other related concepts are examined here with special emphasis on the benefits of positive status in the physical, environme...
Source: Expert Review of Clinical Immunology - July 15, 2023 Category: Allergy & Immunology Authors: Immaculada Armadans-Tremolosa Albert Selva-O'Callaghan Source Type: research

The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - July 15, 2023 Category: Cardiology Source Type: research

Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies
Conclusions Based on these findings, we hypothesise that anti-Mi2 autoantibodies could exert a pathogenic effect by entering damaged myofibres, inhibiting the CHD4/NuRD complex, and subsequently derepressing the unique set of genes defined in this study.
Source: Annals of the Rheumatic Diseases - July 13, 2023 Category: Rheumatology Authors: Pinal-Fernandez, I., Milisenda, J. C., Pak, K., Munoz-Braceras, S., Casal-Dominguez, M., Torres-Ruiz, J., Dell'Orso, S., Naz, F., Gutierrez-Cruz, G., Duque-Jaimez, Y., Matas-Garcia, A., Padrosa, J., Garcia-Garcia, F. J., Guitart-Mampel, M., Garrabou, G., Tags: ARD, Myositis Source Type: research

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene. It encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability. Cavin-1 is expressed in several tissues, including muscles, thus resulting, when dysfu...
Source: Frontiers in Endocrinology - July 12, 2023 Category: Endocrinology Source Type: research

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans
EMBO Mol Med. 2023 Jul 11:e17911. doi: 10.15252/emmm.202317911. Online ahead of print.NO ABSTRACTPMID:37431817 | DOI:10.15252/emmm.202317911
Source: Molecular Medicine - July 11, 2023 Category: Molecular Biology Authors: Aniko Gal Peter Balicza David Weaver Shamim Naghdi Suresh K Joseph P éter Várnai Tibor Gyuris Attila Horv áth Laszlo Nagy Erin L Seifert Maria Judit Molnar Gy örgy Hajnóczky Source Type: research

Bilateral Vocal Fold Paralysis in a Patient With Congenital MYOD1 Myopathy
This report details the first known case of BVFP secondary to a genetic deficiency in MYOD1, a master transcriptional regulator of skeletal muscle cell specification. Genetics consultation and testing may be a useful adjunct in the workup of congenital BVFP and may help guide prognostication, additional workup, counseling, and clinical decision-making.PMID:37431717 | DOI:10.1177/01455613231185031
Source: Ear, Nose and Throat Journal - July 11, 2023 Category: ENT & OMF Authors: Connie Ma Ankita Patro Jason Park Source Type: research

Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death
Conclusion and relevanceThe present study showed varied heart morphology in young adults with DM1 and sudden death. Synergistic effects of various genetic factors other than CTG repeats may increase the risk of sudden cardiac death in DM1 patients, even if signs of cardiac and skeletal muscle involvement are mild. Comprehensive genetic investigations, other than CTG repeat assessment, may be useful to estimate the risk of sudden cardiac death in DM1 patients.
Source: Journal of Neurology - July 11, 2023 Category: Neurology Source Type: research

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