병리학적으로 X 염색체 연관 근세관성근병증을 모방한 선천성 근긴장성이영양증

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참고문헌 (7)

1. Birdi K, "The floppy infant syndrome: Retrospective analysis of clinical experience (1990-2000) in a tertiary care facility", J Child Neurol, 20, pp.803~808 (2005)
2. DiRocco M, "Diagnostic problems in congenital myotonic dystrophy", Eur J Pediatr, 155, pp.995~ (1996)
3. Buj-bello A, "Muscle-specific alternative slicing of myotubulin-related 1 gene is impaired in DM1 muscle cells", Hum Mol Genet, 20, pp.2297~2307 (2002)
4. Tominaga K, "Congenital myotonic dystrophy can show congenital fiber type disproportion pathology", Acta Neuropathol, 19, pp.481~486 (2010)
5. Jungbluth H, "Centronuclear myotubular) myopathy", Orphanet J Rare Dis, 3, pp.26~ (2008)
6. Day JW, "RNA pathogenesis of the myotonic dystrophies", Neuromuscul Disord, 15, pp.5~16 (2005)
7. Sewry CA, "A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy", Neuromuscul Disord, 22, pp.225~230 (2012)

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