A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.

Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ

DOI: 10.1212/nxg.0000000000000182
Published: 2017 Oct
Container: Neurology. Genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1212/nxg.0000000000000182,
  title = {A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.},
  author = {Al-Hashim A and Gonorazky HD and Amburgey K and Das S and Dowling JJ},
  year = {2017},
  journal = {Neurology. Genetics},
  doi = {10.1212/nxg.0000000000000182},
  url = {https://doi.org/10.1212/nxg.0000000000000182}
}

RIS

TY  - JOUR
TI  - A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.
AU  - Al-Hashim A
AU  - Gonorazky HD
AU  - Amburgey K
AU  - Das S
AU  - Dowling JJ
PY  - 2017
JO  - Neurology. Genetics
DO  - 10.1212/nxg.0000000000000182
UR  - https://doi.org/10.1212/nxg.0000000000000182
ER  -

APA

A, A., HD, G., K, A., S, D., & JJ, D. (2017). A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.. Neurology. Genetics. https://doi.org/10.1212/nxg.0000000000000182

Source records

pubmed · retrieved 2026-09-26T22:18:19.358Z
europe-pmc · retrieved 2026-09-26T22:18:19.376Z