Forme inhabituelle de bon pronostic de la myopathie myotubulaire liée à l’X

Autor:	S Moretti, J. C. Mselati, S. Chanzy, C. De Gennes, M. C. Routon
Rok vydání:	2003
Předmět:	Pediatrics medicine.medical_specialty Fatal outcome business.industry Recien nacido Pediatrics Perinatology and Child Health medicine Myotubular Myopathy Congenital disease business Medical care Surgery
Zdroj:	Archives de Pédiatrie. 10:707-709
ISSN:	0929-693X
DOI:	10.1016/s0929-693x(03)00287-2
Popis:	Recessive X-linked myotubular myopathy has recently been shown to be linked to the mutation of a gene located in the Xq28 region. Evolution is used to be considered as fatal but mild forms or forms with a better prognosis have been recorded since. We report a case in a patient, whose parents were warned of fatal outcome once the diagnosis was made during the neonatal period. The reaction of the parents was to avoid any relationship with medical care. Ten years later the patient was seen in relatively good health thus proving that the evolution was more favourable than anticipated.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4de2a5963b061b3fe13d33597ffbe127 https://doi.org/10.1016/s0929-693x(03)00287-2 Zobrazit plný text záznamu Full Text from ScienceDirect