1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)
| Autor: | Istvan Bodi, Stephen Abbs, Heinz Jungbluth, Roser Pons, S. Lillis, P. Manta, Francesco Muntoni, Sotiris Youroukos, M. Tzeti, E. Yatrakou, A.D. Gika, Thomas Cullup, K. Karachristou |
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| Rok vydání: | 2011 |
| Předmět: |
RYR1
medicine.medical_specialty Vital capacity business.industry General Medicine Phenotype Endocrinology Collagen VI Internal medicine Pediatrics Perinatology and Child Health SKELETAL MUSCLE RYANODINE RECEPTOR Medicine Respiratory function Neurology (clinical) medicine.symptom business Myopathy Gene |
| Zdroj: | European Journal of Paediatric Neurology. 15:S13 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/s1090-3798(11)70051-4 |
| Popis: | of nighttime BiPAP use in 45 patients at an average age of 11.34±4.28 years. Patients at the mildest end of the phenotypic spectrum did not demonstrate a clear pattern of decline in respiratory function. Conclusions: Forced vital capacity is a viable outcome measure for patients at the moderate to severe end of the collagen VI myopathy phenotypic spectrum, a finding which should inform optimal surveillance and clinical trial planning. |
| Databáze: | OpenAIRE |
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