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Literature DB >> 28131200

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.

Keiichiro Tsunoda¹, Toru Yamashita¹, Emi Motokura¹, Yoshiaki Takahashi¹, Kota Sato¹, Mami Takemoto¹, Nozomi Hishikawa¹, Yasuyuki Ohta¹, Atsuko Nishikawa², Ichizo Nishino², Koji Abe³.

Abstract

Entities: Disease Gene Mutation Species

Keywords: Adult-onset nemaline myopathy; Compound heterozygote; Nebulin (NEB)

Mesh：

Substances：
Muscle Proteins
nebulin

Year: 2016 PMID： 28131200 DOI： 10.1016/j.jns.2016.12.069

Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181

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Cited

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5 in total

1. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.

Authors: Vardiella Meiner; Alexander Lossos; Hagit Baris Feldman; Penina Ponger; Alina Kurolap; Israela Lerer; Judith Dagan; Chofit Chai Gadot; Adi Mory; Yael Wilnai; Nino Oniashvili; Nir Giladi; Tanya Gurevich
Journal: J Mol Neurosci Date: 2022-06-08 Impact factor: 2.866

2. Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.

Authors: Mizuki Ito; Sayuri Shima; Ryunosuke Nagao; Shoko Nakano; Konoka Esaka; Akihiro Ueda; Shingo Maeda; Ryoma Moriya; Masashi Kondo; Kazuyoshi Imaizumi; Seiya Noda; Masahisa Katsuno; Ichizo Nishino; Hirohisa Watanabe
Journal: Intern Med Date: 2021-11-13 Impact factor: 1.282

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.

1. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.

2. Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.

3. Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.

Review 4. Update on Congenital Myopathies in Adulthood.

5. An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant.