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Page 1
Diaphragmatic dysfunction in SEPN1-related myopathy.
Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B. Caggiano S, et al. Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26. Neuromuscul Disord. 2017. PMID: 28606403
SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. ...This study confirms that diaphragmatic dysfunction is a characteristic feature of SEPN1 …
SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid …
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC. de Laat ECM, et al. BMC Neurol. 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4. BMC Neurol. 2024. PMID: 39443859 Free PMC article.
BACKGROUND: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular …
BACKGROUND: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly p …
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.
Bouman K, Gubbels M, van den Heuvel FMA, Groothuis JT, Erasmus CE, Nijveldt R, Udink Ten Cate FEA, Voermans NC. Bouman K, et al. Neuromuscul Disord. 2022 Aug;32(8):635-642. doi: 10.1016/j.nmd.2022.06.004. Epub 2022 Jun 23. Neuromuscul Disord. 2022. PMID: 35868898 Free article. Review.
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. Systematic r …
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM …
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. J Neuromuscul Dis. 2023;10(6):1055-1074. doi: 10.3233/JND-221673. J Neuromuscul Dis. 2023. PMID: 37807786 Free PMC article.
BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. ...OBJECTIVE: We aim to identify all …
BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease chara …
Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.
Bouman K, van Doorn JLM, Groothuis JT, Wijkstra PJ, van Engelen BGM, Erasmus CE, Doorduin J, Voermans NC. Bouman K, et al. Eur J Paediatr Neurol. 2024 Jan;48:30-39. doi: 10.1016/j.ejpn.2023.11.005. Epub 2023 Nov 22. Eur J Paediatr Neurol. 2024. PMID: 38008001 Free article.
INTRODUCTION: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with respiratory impairment from a young age. ...SNIP was low in both neur …
INTRODUCTION: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopat …
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Zweers-van Essen H, de Baaij-Daalmeyer A, Janssen MCH, Erasmus CE, Draaisma JMT, Voermans NC. Bouman K, et al. Neuromuscul Disord. 2024 Jan;34:105-113. doi: 10.1016/j.nmd.2023.11.008. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38160563 Free article.
Fragility fractures are frequently reported in neuromuscular diseases and negatively influence functional prognosis, quality of life and survival. In LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myo …
Fragility fractures are frequently reported in neuromuscular diseases and negatively influence functional prognosis, quality of life …
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A. Filipe A, et al. Cell Death Differ. 2021 Jan;28(1):123-138. doi: 10.1038/s41418-020-0587-z. Epub 2020 Jul 13. Cell Death Differ. 2021. PMID: 32661288 Free PMC article.
SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis and life-threatening respiratory failure. ...To investigate the pathophysiologi …
SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is chara …
Resilience Story of Managing Severe Obstructive Sleep Apnea With Hypoventilation Secondary to SELENON (SEPN1)-Related Myopathy.
Alhajaji R, Dhafar HO, Al Saadi MM, BaHammam AS. Alhajaji R, et al. Respirol Case Rep. 2025 Aug 27;13(8):e70327. doi: 10.1002/rcr2.70327. eCollection 2025 Aug. Respirol Case Rep. 2025. PMID: 40881152 Free PMC article.
SELENON-related myopathy is a rare autosomal recessive disorder characterised predominantly by muscle weakness; sleep-disordered breathing and respiratory failure are frequent complications. We report a 15-year-old male with genetically confirmed SELENON …
SELENON-related myopathy is a rare autosomal recessive disorder characterised predominantly by muscle weakness; sleep-d …
Multi-minicore Disease.
Jungbluth H. Jungbluth H. Orphanet J Rare Dis. 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. Orphanet J Rare Dis. 2007. PMID: 17631035 Free PMC article. Review.
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most …
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical …
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M, Zammit PS. Ganassi M, et al. Eur J Transl Myol. 2022 Mar 18;32(1):10064. doi: 10.4081/ejtm.2022.10064. Eur J Transl Myol. 2022. PMID: 35302338 Free PMC article.
In addition to directly affecting skeletal muscle, pathogenesis can also arise from dysfunctional crosstalk between nerves and muscles, and may include cardiac impairment. Muscular weakness is often progressive and paralleled by continuous decline in the ability of skeleta …
In addition to directly affecting skeletal muscle, pathogenesis can also arise from dysfunctional crosstalk between nerves and muscles, and …
57 results