Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations

Taiji Mukai; Madoka Mori-Yoshimura; Atsuko Nishikawa; Keiichi Hokkoku; Masahiro Sonoo; Ichizo Nishino; Yuji Takahashi

doi:10.1002/mus.26355

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations

Muscle Nerve. 2019 Feb;59(2):E5-E7. doi: 10.1002/mus.26355. Epub 2018 Nov 13.

Authors

Taiji Mukai^{1

2}, Madoka Mori-Yoshimura¹, Atsuko Nishikawa^{3

4}, Keiichi Hokkoku⁵, Masahiro Sonoo⁵, Ichizo Nishino^{3

4}, Yuji Takahashi¹

Affiliations

¹ Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.
² Department of Neurology, The Jikei University School of Medicine, Tokyo, Japan.
³ Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
⁴ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
⁵ Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan.

PMID: 30311943
DOI: 10.1002/mus.26355

No abstract available

Keywords: Emery-Dreifuss muscular dystrophy-related myopathy (EDMD-related myopathy); TMEM43 mutations; autosomal dominant inheritance; filioparental case; joint contracture.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Genetic Testing
Humans
Male
Membrane Proteins / genetics*
Muscular Dystrophy, Emery-Dreifuss / genetics*
Muscular Dystrophy, Emery-Dreifuss / pathology
Mutation / genetics*

Substances

Membrane Proteins
TMEM43 protein, human

Publication types

MeSH terms

Substances

Grants and funding