Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy-Reference-Cited by-同舟云学术

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Published:2021-04 Issue:4 Volume:31 Page:359-366
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Schirwani Schaida,Sarkozy Anna,Phadke Rahul,Childs Anne-Marie,Mein Rachael,Ismail Azzam,Smith Audrey,Muntoni Francesco,Hobson Emma,Pysden Karen

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference19 articles.

1. A systematic nomenclature for mammalian tropomyosin isoforms;Geeves;J Muscle Res Cell Motil,2015

2. Tajsharghi H, Ohlsson M, Palm L, Oldfors A. Myopathies associated with β-tropomyosin mutations. 2012. https://doi.org/ 10.1016/j.nmd.2012.05.018.

3. A TPM3 mutation causing cap myopathy;De Paula;Neuromuscul Disord,2009

4. Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene;Ilkovski;Am J Hum Genet,2001

5. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and escobar variants of multiple pterygium syndrome;Morgan;Am J Hum Genet,2006

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2. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20

3. Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease;2023-03-21

4. Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome;Genes;2022-09-27

5. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis;Genes;2021-12-23

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