Proteomic profiling of sporadic late‐onset nemaline myopathy
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DOI: 10.1002/acn3.51527
Abstract: To define the proteomic profile of sporadic late‐onset nemaline myopathy (SLONM) and explore its pathogenesis. read more here.
Keywords: sporadic late; onset nemaline; nemaline myopathy; late onset ... See more keywords
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25144
Abstract: Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha‐actin… read more here.
Keywords: contributes muscle; muscle weakness; acta1; weakness ... See more keywords
LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings
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DOI: 10.1002/jum.14520
Abstract: To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3‐related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy.… read more here.
Keywords: myopathy prenatal; affected fetuses; prenatal ultrasonographic; nemaline myopathy ... See more keywords
ACTA1-Related Nemaline Myopathy Mutations Engender a Range of Structural and Functional Phenotypes in Drosophila Indirect Flight Muscles
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.1010
Abstract: Nemaline myopathy is a congenital disorder characterized by muscle weakness. Dominant-negative disease-causing mutations have been identified in various genes that encode sarcomeric thin filament proteins. of these, mutations in skeletal muscle α-actin (ACTA1) account for… read more here.
Keywords: acta1 related; indirect flight; muscle; nemaline myopathy ... See more keywords
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.04.011
Abstract: Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance is a rare subacute adult-onset myopathy. Without appropriate treatment, the prognosis is unfavorable and can be fatal. Various efficacious treatment options have been reported. High… read more here.
Keywords: monoclonal gammopathy; late onset; gammopathy; nemaline myopathy ... See more keywords
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102429
Abstract: To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the ACTA1 gene to iPSCs. Using… read more here.
Keywords: generating ipsc; control; nemaline myopathy; isogenic control ... See more keywords
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-29437-z
Abstract: L-tyrosine supplementation may provide benefit to nemaline myopathy (NM) patients, however previous studies are inconclusive, with no elevation of L-tyrosine levels in blood or tissue reported. We evaluated the ability of L-tyrosine treatments to improve… read more here.
Keywords: skeletal muscle; tyrosine supplementation; dominant skeletal; tyrosine ... See more keywords
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
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DOI: 10.1055/s-0041-1728782
Abstract: Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the… read more here.
Keywords: respiratory; hypotonia respiratory; respiratory failure; nemaline myopathy ... See more keywords
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlz056
Abstract: KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and… read more here.
Keywords: founder; klhl40; ethnic chinese; nemaline myopathy ... See more keywords
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data
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DOI: 10.1177/08830738221096316
Abstract: Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the… read more here.
Keywords: myopathy systematic; systematic review; nemaline myopathy; pediatric nemaline ... See more keywords
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200056
Abstract: Background and Objectives Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM… read more here.
Keywords: age; patients neb; nemaline myopathy; support ... See more keywords