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

J Neurol Sci. 2017 Feb 15:373:254-257. doi: 10.1016/j.jns.2016.12.069. Epub 2016 Dec 30.

Affiliations

¹ Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
² National Center of Neurology and Psychiatry, 4-1-1 Kodaira, Tokyo 187-8502, Japan.
³ Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan. Electronic address: me18046@s.okayama-u.ac.jp.

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

No abstract available

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

Publication types

Case Reports
Letter

MeSH terms

Diagnosis, Differential
Disease Progression
Heterozygote*
Humans
Male
Middle Aged
Muscle Proteins / genetics*
Muscle Weakness / genetics
Mutation*
Myopathies, Nemaline / diagnosis
Myopathies, Nemaline / genetics*
Myopathies, Nemaline / pathology
Myopathies, Nemaline / physiopathology
Respiratory Insufficiency / diagnosis
Respiratory Insufficiency / genetics
Respiratory Insufficiency / pathology
Respiratory Insufficiency / physiopathology

Substances

Muscle Proteins
nebulin