Results 71 to 80 of about 1,662 (201)
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 +8 more
core +1 more source
Case Report - Nemaline rod myopathy: A rare form of myopathy
, 2007 Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive or nonprogressive muscle weakness and pathognomonic rod-like structures within the muscle fibers.
Sharma, MC, Gulati, S
core +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 +4 more
wiley +1 more source
, 2009 This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core
Magnetic resonance imaging of muscle in nemaline myopathy
, 2004 We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases.
Pelin, K +11 more
core +1 more source
Abstract This chapter presents a 58-year-old woman with progressive weakness, dysphagia, and dyspnea, ultimately diagnosed with sporadic late-onset nemaline myopathy. She has a complex history that includes antiphospholipid antibody syndrome, pulmonary hypertension, monoclonal gammopathy, positive antinuclear antibody (ANA), and ...
Friedman, Brooke +3 more
openaire +3 more sources
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 +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 +16 more
wiley +1 more source
Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes
BMC Cell Biology, 2007 Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Machesky Laura M +2 more
doaj +1 more source
Cullin-3 Dependent Deregulation of ACTN1 Represents a New Pathogenic Mechanism in Nemaline Myopathy
, 2019 Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy, and presence of nemaline bodies within myofibers. However, understanding of the underlying pathomechanisms is lacking.
Blondelle, Jordan +12 more
core +1 more source