Results 71 to 80 of about 3,165 (200)
Skeletal muscle repair in a mouse model of nemaline myopathy [PDF]
, 2006 Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available.
Sanoudou, D. +7 more
core +1 more source
Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy
, 2008 Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis ...
Coons, Stephen +5 more
core +1 more source
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
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 +5 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
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
Congenital myopathies 1 – Nemaline
, 2020 Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia (WA) in the 1960s and 70s.
Conijn, S. +15 more
core
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
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 +16 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 +6 more
doaj +1 more source