We report on a Japanese family affected by Emery-Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene. The cardinal clinical feature of the family was cardiac conduction block and mild myopathy. A deletion of 11 bp with a frameshift was identified in exon 6, causing truncation of the predicted protein. The relationship between mutation and phenotype is discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ana.410410316 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Understanding marital stability through work-family experiences in proximal and distal contexts: Comparing United States and Japan.
Fam Relat
December 2024
College of Health and Human Sciences, San José State University, San José, CA.
Objective: Guided by Gottman's framework of marital stability and the ecological theories, the present study aims to understand the relationships between work-family spillover and marital stability within two levels of context-the relational and social cultural contexts.
Background: The relational context of marriage is manifested by spousal relationships-spousal support and strain, which would moderate the relationship between work-family spillover and marital stability. Identified relationships also unfold within sociocultural contexts.
This study investigated two cases. Case 1 involves a 53-year-old man who suffered from sleep apnea syndrome at age 48. Moreover, he was involved in a rear-end collision while driving and was admitted to the hospital at age.
View Article and Find Full Text PDF[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].
Rinsho Shinkeigaku
January 2025
Department of Neurology, The University of Tokyo Hospital.
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.
View Article and Find Full Text PDFObjectives Family caregivers of individuals with young-onset dementia (YOD) often struggle to seek help, despite the heavy burden of care. This study explored their feelings when attempting to find support in the early stages after diagnosis.Methods This qualitative descriptive study conducted semi-structured interviews with eight family caregivers of patients with YOD at home.
View Article and Find Full Text PDFPrevalence of nonrestorative sleep before and during the COVID-19 pandemic: based on a nationwide cross-sectional survey among Japanese in 2019 and 2022.
Environ Health Prev Med
January 2025
Nara Prefectural Health Research Center, Nara Medical University.
Background: Japanese people sleep less compared to other countries around the world. Using a large nationally representative survey in 2019 and 2022, we investigated whether sleep duration and nonrestorative sleep (NRS) among Japanese people have improved or worsened due to the COVID-19 pandemic.
Methods: Data were drawn from the Comprehensive Survey of Living Conditions, a nationwide cross-sectional sample based on self-administered questionnaires.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!