Results 41 to 50 of about 163 (89)

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle

Chinese Medical Journal, 2017
Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission.
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang   +7 more
doaj   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome

Frontiers in Neurology, 2019
A 30-year-old woman with congenital vocal cord paralysis presented for evaluation of fatigable proximal upper limb weakness and difficulty maintaining the neck erect.
Marcus V. Pinto, Jacqui-Lyn Saw, Margherita Milone   +2 more
doaj   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, Volume 16, Issue 1, Page 178-198, January 2026.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency

Journal of the Pakistan Medical Association
A 13-month-old girl, diagnosed with congenital myasthenic syndrome due to CHRNE and GMPPB mutation, presented with involuntary movement of muscles and ptosis along with lethargy, having a poor response to Pyridostigmine and improved symptoms with ...
Abia Abdullah, Sana Ashraf , Prem Chand
doaj   +1 more source

Add‐On Telitacicept Significantly Improves Outcome of Patients With Refractory Ocular Myasthenia Gravis a Real‐World Case Series

Brain and Behavior, Volume 16, Issue 1, January 2026.
6/7 patients achieved CMI by the third follow‐up, sustained to the fourth follow‐up, and 4/6 reached MSE by the fifth follow‐up. First real‐world evidence of adding telitacicept efficacy in refractory ocular MG symptoms Abstract Introduction Refractory ocular myasthenia gravis (MG) represents a significant therapeutic challenge, as conventional ...
Jing Lin, Yue Li, Mengcui Gui, Bitao Bu, Zhijun Li   +4 more
wiley   +1 more source

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom

Muscle &Nerve, Volume 73, Issue 1, Page 79-85, January 2026.
ABSTRACT Introduction/Aims Congenital myasthenic syndromes (CMS) are often underdiagnosed due to phenotypic overlap with other neuromuscular disorders. Limited epidemiological data and low awareness hinder early diagnosis, which is key for effective treatment.
Elena Rossini, Leighann Henehan, Yin Yao Dong, Chiara Marini Bettolo, Pinki Munot, Heinz Jungbluth, Fiona Norwood, Imelda Hughes, David Beeson, Sithara Ramdas, Jacqueline Palace   +10 more
wiley   +1 more source

New Aspects of 2-Adrenergic Agonists

Journal of Bahria University Medical and Dental College, 2015
Beta2-adrenergic receptor agonists is a class of medications that act on the 2-adrenergic receptors. They are mostly used to treat asthma and other respiratory problems at present.
Touseef Sayyar
doaj