Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/mds.23492 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Congenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
View Article and Find Full Text PDFThe Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia.
Noro Psikiyatr Ars
November 2024
Biochemistry Laboratory, LR12ES05 "Nutrition-Functional Foods and Vascular Health", Faculty of Medicine, Monastir, Tunisia.
Dropped head syndrome is a common complication of various neurological disorders. Most commonly, dropped head syndrome is due to primary or secondary myopathy. However, neurodegenerative diseases and various other conditions can also be complicated by dropped head syndrome.
View Article and Find Full Text PDFWe present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively.
View Article and Find Full Text PDFNemaline Myopathy Type 6 Caused by Variants in the Gene: A Cross-Sectional Study of 24 Patients.
Neurol Genet
December 2024
From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.
Background And Objectives: Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here provide a detailed assessment of 24 patients.
Methods: In this cross-sectional study, we performed a full clinical assessment (medical history and neurologic examination) in patients with NEM6.
Vasculitic Myopathy: Clinical Characteristics and Long-Term Outcomes.
Neurology
December 2024
From the Department of Neurology (M.V.P., P.S., E.N.), and Division of Rheumatology (K.J.W., M.J.K.), Department of Internal Medicine, Mayo Clinic, Rochester, MN.
Article Synopsis
- - The study investigates vasculitic myopathy, a rare manifestation of vasculitis, to characterize its clinical features, lab results, and treatment outcomes using a retrospective review of patient records from 1980 to 2022.
- - Out of 25 identified patients, most presented with proximal weakness and pain, with 80% showing myopathy as the first sign of vasculitis; significant findings included inflammation in muscle biopsies and elevated blood markers in some cases.
- - Key findings include high instances of perivascular inflammation in biopsies, with substantial destruction noted in vessel walls; a notable proportion of patients also displayed signs of peripheral neuropathy.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!