Results 51 to 60 of about 2,179 (131)

Nemaline Myopathy: Respiratory Failure

Pediatric Neurology Briefs, 1991
A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
doaj   +1 more source

68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy

BMC Pulmonary Medicine, 2022
Background Neuromuscular pathologies must be considered when caring for patients with persistent or progressive respiratory failure. Pertinent disease states may involve skeletal muscles of respiration or associated neurologic structures including motor ...
Pradhab Kirupaharan, Daniel Kramer, Alan Gandler, Lawrence Kenyon, Ross Summer   +4 more
doaj   +1 more source

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel, Carolina Gorodetsky, Laura Cif, Nardo Nardocci, Alfonso Fasano   +4 more
wiley   +1 more source

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy

Disease Models & Mechanisms, 2015
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian, Sheng Ding, Yun You, Tong-ruei Li, Yan Liu, Xiaohui Wu, Ling Sun, Tian Xu   +7 more
doaj   +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

Mechanistic Insights Into NFIX‐Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle

Smart Medicine, Volume 5, Issue 1, February 2026.
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu, Shuang Liu, Xi Chen, Chengxiao Qin, Yueyu Wang, Chunchun Xue, Lingxing Li, Wenlan Du, Xin Chen, Xiaofeng Li, Jie Shen, He Song   +11 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source