Myopathies, Nemaline

"Myopathies, Nemaline" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)

Descriptor ID

D017696

MeSH Number(s)

C05.651.575.290

C10.668.491.550.290

Concept/Terms

Myopathies, Nemaline

Nemaline Myopathy, Autosomal Dominant

Nemaline Myopathy, Childhood Onset

Nemaline Myopathy, Late Onset

Adult Onset Nemaline Myopathy

Nemaline Myopathy, Autosomal Recessive

Below are MeSH descriptors whose meaning is more general than "Myopathies, Nemaline".

Diseases [C]
Musculoskeletal Diseases [C05]
Muscular Diseases [C05.651]
Myopathies, Structural, Congenital [C05.651.575]
Myopathies, Nemaline [C05.651.575.290]
Nervous System Diseases [C10]
Neuromuscular Diseases [C10.668]
Muscular Diseases [C10.668.491]
Myopathies, Structural, Congenital [C10.668.491.550]
Myopathies, Nemaline [C10.668.491.550.290]

Below are MeSH descriptors whose meaning is related to "Myopathies, Nemaline".

Below are MeSH descriptors whose meaning is more specific than "Myopathies, Nemaline".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Myopathies, Nemaline" by people in Harvard Catalyst Profiles by year, and whether "Myopathies, Nemaline" was a major or minor topic of these publication.

Bar chart showing 45 publications over 22 distinct years, with a maximum of 4 publications in 2009 and 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1994	1	0	1
1998	1	0	1
1999	3	0	3
2001	2	0	2
2002	1	1	2
2003	3	0	3
2004	3	0	3
2006	3	0	3
2008	1	0	1
2009	4	0	4
2010	2	0	2
2011	1	0	1
2012	2	0	2
2013	4	0	4
2014	2	0	2
2015	0	1	1
2016	2	0	2
2017	1	0	1
2018	1	0	1
2019	1	1	2
2020	3	0	3
2021	1	0	1

Below are the most recent publications written about "Myopathies, Nemaline" by people in Profiles.

A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 03 09; 96(10):e1425-e1436.

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Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. Am J Med Genet A. 2021 02; 185(2):370-376.

View in: PubMed
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 04; 87(4):568-583.

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KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020 02 03; 130(2):754-767.

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Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy. Hum Mol Genet. 2019 08 01; 28(15):2549-2560.

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MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud. 2019 08; 5(4).

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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med. 2019 07; 21(7):1629-1638.

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Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med. 2017 11; 5(6):678-691.

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Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. . 2016 08; 170(8):2219-21.

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Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol. 2016 06; 186(6):1568-81.

View in: PubMed

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