Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Brain

4 Randall Division for Cell and Molecular Biophysics and Cardiovascular Division, King's College London, London, UK

Published: June 2014

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032095PMC
http://dx.doi.org/10.1093/brain/awu033DOI Listing

Publication Analysis

Top Keywords

reply hereditary
4
hereditary myopathy
4
myopathy early
4
early respiratory
4
respiratory failure
4
failure caused
4
caused mutations
4
mutations titin
4
titin fn3
4
fn3 119
4

Similar Publications

Reply to Importance of Identifying Physical Manifestations That Are Associated With Hereditary Cancer Predisposition: Mutation in an African-American Patient.

JCO Oncol Pract

October 2024

William Fostier, MBBS, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom, Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; Ari Horton, MBBS, and Ingrid Winship, PhD, MBBS, Genomic Medicine and Parkville Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, Australia, Department of Medicine, The University of Melbourne, Parkville, VIC, Australia; and Neil Rajan, PhD, MBBS, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom, Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.

View Article and Find Full Text PDF

Background: The cutoff of <1% positive cells to define estrogen receptor (ER) negativity by immunohistochemistry (IHC) in breast cancer (BC) is debated. We explored the tumor immune microenvironment and gene-expression profile of patients with early-stage HER2-negative ER-low (ER 1%-9%) BC, comparing them to ER-negative (ER <1%) and ER-intermediate (ER 10%-50%) tumors.

Methods: Among 921 patients with early-stage I-III, ER ≤50%, HER2-negative BCs, tumors were classified as ER-negative (n = 712), ER-low (n = 128), or ER-intermediate (n = 81).

View Article and Find Full Text PDF

Pioneering the future: CRISPR-Cas9 gene therapy for hereditary hemorrhagic telangiectasia. Author's reply.

Eur J Intern Med

September 2024

HHT Unit. Hospital Universitari de Bellvitge. L'Hospitalet de Llobregat, Barcelona, Spain; Internal Medicine Department. Hospital Universitari de Bellvitge. L'Hospitalet de Llobregat, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat, Barcelona, Spain; Faculty of Medicine and Health Sciences. Universitat de Barcelona, Barcelona Spain. Electronic address:

View Article and Find Full Text PDF

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!