A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency

Brain Pathol. 2018 Jan;28(1):123-124. doi: 10.1111/bpa.12575.

Authors

Akinori Uruha^{1

2}, Yukiko K Hayashi^{1

2

3}, Madoka Mori-Yoshimura⁴, Yasushi Oya⁴, Masahiro Kanai⁴, Miho Murata⁴, Ichizo Nishino^{1

2}

Affiliations

¹ Department of Genome Medicine Development, Medical Genome Center, Tokyo, Japan.
² Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
³ Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.
⁴ Department of Neurology, National Center Hospital, NCNP, Tokyo, Japan.

No abstract available

Publication types

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

MeSH terms

Adult
Connectin / genetics
Humans
Male
Muscle Weakness / complications
Muscle Weakness / diagnosis*
Muscle Weakness / genetics*
Muscle Weakness / pathology
Muscle, Skeletal / pathology
Mutation
Respiratory Insufficiency / complications
Respiratory Insufficiency / diagnosis*

Substances

Connectin
TTN protein, human