X-bunden myotubulaer myopati. Muskelbiopsi som diagnostisk middel ved neonatal myopati
Engelsk titel: X-linked myotubular myopathy. Muscle biopsy as a diagnostic tool in neonatal myopathy
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Författare:
Dahl M
;
Schröder HD
;
Kjaersgård Hansen L
Email: mariannedahl@bullerupnet.dk
Språk: Dan
Antal referenser: 5
Dokumenttyp:
Fallbeskrivning
UI-nummer: 05061015
Sammanfattning
Severe neonatal myotubular myopathy is inherited as an X-linked condition and is most often characterised by extreme muscular hypotonia and few spontaneous movements. We report a case to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. Muscle biopsy is a valuable investigative tool in early diagnosis. Our patient had a muscle biopsy on his second day of life, which led to the diagnosis of myotubular myopathy. The later finding of a mutation in the patient's MTM1 gene established the diagnosis of X-linked myotubular myopathy.