[Unusual good prognosis for X-linked myotubular myopathy].
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.
Chanzy
S
S
Service de pédiatrie et néonatologie, centre hospitalier d'Orsay, 91401 Orsay, France. s.chanzy@ch-orsay.fr
Routon
M C
MC
Moretti
S
S
de Gennes
C
C
Mselati
J C
JC
D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology*; D006304:Health Status; D006801:Humans; D008297:Male; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis