본문 바로가기
KERD
논문KCI 등재

흉요추 측만증을 동반한 중심핵 근육병증 1예

A Case of Centronuclear Myopathy with Thoracolumbar Scoliosis

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

초록

Centronuclear myopathy is a very rare disease of which pathologic findings are characterized by nuclei located in center of myofiber. The etiology is not resolved but arrest of myofiber maturation is suspected. 12-year old girl with generalized muscle weakness who complaint of thoracolumbar scoliosis, was diagnosed to centronuclear myopathy and got a operational correction. After operation and early rehabilitation program, she achieved gait capability. We considered this meant better quality of life.

Abstract

Centronuclear myopathy is a very rare disease of which pathologic findings are characterized by nuclei located in center of myofiber. The etiology is not resolved but arrest of myofiber maturation is suspected. 12-year old girl with generalized muscle weakness who complaint of thoracolumbar scoliosis, was diagnosed to centronuclear myopathy and got a operational correction. After operation and early rehabilitation program, she achieved gait capability. We considered this meant better quality of life.

참고문헌 (10)

  1. Spiro AJ, "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy", Arch Neurol, 14, pp.1~14 (1966)
  2. Gayathri N, "Centronuclear myopathy-morphological relation to developing human skeletal muscle: a clinicopathological evaluation", Neurology India, 48, pp.19~28 (2000)
  3. Thomas NST, "X-linked myotubular myopathy: evidence for linkage to Xq28 DNA markes", Cytogenet Cell Genet, 46, pp.704~ (1987)
  4. Bodensteiner JB, "Congenital myopathies", Muscle Nerve, 17, pp.131~144 (1994)
  5. McLeod JG, "Centronuclear myopathy with autosomal dominant inheritance", J Neurol Sci, 15, pp.375~387 (1972)
  6. Bitoun M, "Mutation in dynamin 2 cause dominant centronuclear myopathy", Nat Genet, 37, pp.1207~1209 (2005)
  7. Goebel HH, "Centroneuclear myopathy with special consideration of the adult form", Eur Neurol, 23, pp.425~434 (1984)
  8. Brooke MH, "Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy", Neurology, 39, pp.475~481 (1989)
  9. Miller F, "Spinal fusion in Duchenne muscular dystrophy", Dev MEd Child Neurol, 34, pp.775~786 (1992)
  10. Shapiro F, "Spinal fusion in Duchenne muscular dystrophy: A multodisciplinary approach", Muscle Nerve, 15, pp.604~614 (1992)

관련 논문AI추천

이 간행물의 다른 논문 (18건)