Results 51 to 60 of about 927 (180)

Autosomal Dominant Missense DAG1 Variant Linked to Mild–Moderate LGMD R16

Human Mutation, Volume 2026, Issue 1, 2026.
Limb‐girdle muscular dystrophies (LGMDs) are disorders with an important clinical heterogeneity, usually involving proximal limb muscles. One subtype, LGMD R16 (LGMD 2P), is an autosomal recessive condition caused by pathogenic variants in DAG1, with clinical presentations ranging from mild to extremely severe forms.
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, Andreea Dumitrescu, Luca Sali, Alexandra Bastian, Hane Lee, Homa Tajsharghi, Camille Verebi, Juliette Nectoux, France Leturcq, Rahul Phadke, Anna Sarkozy, Adnan Manzur, Redouane Fodil, Amelia Dobrescu, Miklos Sahin -Toth   +16 more
wiley   +1 more source

Dietary L-tyrosine supplementation in Nemaline myopathy

, 2008
Copyright © 2008 Sage PublicationsNemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy. Facial and bulbar weakness in nemaline myopathy cause chewing and swallowing difficulties, recurrent aspiration, and poor ...
Ryan, M., Rudge, S., Iannaccone, S., Sy, C., Roddick, L., Ellaway, C., Kornberg, A., Ketteridge, D., North, K.   +8 more
core   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

Clinical heterogeneity in Korean patients with nemaline myopathy [PDF]

, 2010
PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers.
선우일남, 최영철, 홍지만, 김승민, 김태승, 김세훈   +5 more
core   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Prevalence of function‐limiting late effects in survivors of head and neck cancer

PM&R, Volume 17, Issue 6, Page 654-662, June 2025.
Abstract Background Survivors of head and neck cancer (HNC) are commonly affected by multiple complex and interrelated long‐term and late effects that can adversely affect their function and quality of life. Objective To define the prevalence of neuromuscular, musculoskeletal, visceral, oncologic, and other late effects affecting function and quality ...
Yu Hui Won, Michael D. Stubblefield
wiley   +1 more source

Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate

, 2019
Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy.
Bidev, Duygu, Oncel, Mehmet Y., TALİM, BERİL, Oguz, Serife S., Sahin, Suzan, Okur, Nilufer   +5 more
core   +1 more source

Nemaline myopathy type 6: clinical and myopathological features [PDF]

, 2018
Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined.
Odgerel, Zagaa, Blokhin, Andre, González Mera, Laura, Lee, Hee Suk, Goldfarb, Lev G., Olivé i Plana, Montserrat, Sambuughin, Nyamkhishig, Laing, Nigel G., Moreno, Dolores   +8 more
core   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source