Nemaline Myopathy Type 6 Caused by Variants in the <i>KBTBD13</i> Gene
This cross-sectional study in patients with NEM6 shows a relatively mild clinical phenotype and mildly abnormal functional tests. However, patients report an important impact on the daily activities, which is illustrated by functional difficulties, reduced quality of life, increased fatigue severity, and increased prevalence of falls. This might be related to delayed muscle relaxation. This study provides a comprehensive overview of the clinical presentation and functional limitations in patients with NEM6.
Authors
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Nicol Cornelia Voermans (ORCID: https://orcid.org/0000-0002-5837-7295)
- Montse Olivé (ORCID: https://orcid.org/0000-0001-5727-0165)
- Benno Küsters (ORCID: https://orcid.org/0000-0003-0458-9441)
- J. Molenaar (ORCID: https://orcid.org/0000-0003-0453-4811)
- Jonne Doorduin (ORCID: https://orcid.org/0000-0002-4157-1649)
- Esmee S.B. van Kleef
- Jan T. Groothuis (ORCID: https://orcid.org/0000-0003-3436-2475)
- Baziel G.M. van Engelen (ORCID: https://orcid.org/0000-0001-9867-9047)
- Karlijn Bouman (ORCID: https://orcid.org/0000-0003-4964-3077)
- Coen A. C. Ottenheijm (ORCID: https://orcid.org/0000-0002-8808-4813)
- Erik‐Jan Kamsteeg (ORCID: https://orcid.org/0000-0001-6480-1892)
Institutions
- Radboud University Nijmegen (NL)
- Inserm (FR)
- Université Paris-Est Créteil (FR)
- Radboud University Medical Center (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut Mondor de Recherche Biomédicale (FR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200214
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Radboud Universitair Medisch Centrum