Neuromuscular disorders : NMD, 2017-08, Vol.27 (8), p.747-755
2017
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Details
- Autor(en) / Beteiligte
- Titel
- Diaphragmatic dysfunction in SEPN1-related myopathy
- Ist Teil von
- Neuromuscular disorders : NMD, 2017-08, Vol.27 (8), p.747-755
- Ort / Verlag
- England: Elsevier B.V
- Erscheinungsjahr
- 2017
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Highlights • SEPN1-related myopathy is characterized by a predominant diaphragmatic dysfunction. • This explains the high prevalence of sleep-disordered breathing. • Weakness of the expiratory muscles is also observed in SEPN1-related myopathy. • Noninvasive ventilation may stabilize the decline of respiratory muscle function.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0960-8966eISSN: 1873-2364DOI: 10.1016/j.nmd.2017.04.010Titel-ID: cdi_hal_primary_oai_HAL_hal_03108266v1
- Format
- –
- Schlagworte
- Adolescent, Child, Diaphragm, Diaphragm - physiopathology, Female, Follow-Up Studies, Humans, Life Sciences, Male, Middle Aged, Muscle Proteins - genetics, Muscle Strength, Muscular Diseases - genetics, Muscular Diseases - physiopathology, Muscular Diseases - therapy, Mutation, Neurology, Noninvasive Ventilation, Respiratory function, Respiratory Paralysis - etiology, Respiratory Paralysis - genetics, Respiratory Paralysis - physiopathology, Rigid spine muscular dystrophy, Selenoproteins - genetics, SEPN1-related myopathy, Vital Capacity