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      KCI등재 SCI SCIE SCOPUS

      A Case of Adult-Onset Centronuclear Myopathy

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      https://www.riss.kr/link?id=A101617081

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      다국어 초록 (Multilingual Abstract)

      Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.
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      Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal...

      Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.

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      참고문헌 (Reference)

      1 "X-linked myotubular myopathy: evidence for linkage to Xq28 DNA markes" 46 : 704-, 1987

      2 "Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease" 10 : 489-500, 1970

      3 "Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model" 18 : 435-444, 1968

      4 "Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures" 19 : 705-710, 1969

      5 "Myotubular, centronuclear or peri-centronuclear myopathy?" 8 : 425-443, 1969

      6 "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy" 14 : 1-14, 1966

      7 "Life-threatening congestive heart failure as the presentation of centronuclear myopathy" 3 : 117-120, 1987

      8 "Familial myotubular myopathy" 19 : 901-908, 1969

      9 "Familial centronuclear myopathy: a clinical and pathological study" 17 : 727-742, 1967

      10 "Familial centronuclear myopathy associated with 'cardiomyopathy'" 38 : 504-509, 1976

      1 "X-linked myotubular myopathy: evidence for linkage to Xq28 DNA markes" 46 : 704-, 1987

      2 "Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease" 10 : 489-500, 1970

      3 "Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model" 18 : 435-444, 1968

      4 "Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures" 19 : 705-710, 1969

      5 "Myotubular, centronuclear or peri-centronuclear myopathy?" 8 : 425-443, 1969

      6 "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy" 14 : 1-14, 1966

      7 "Life-threatening congestive heart failure as the presentation of centronuclear myopathy" 3 : 117-120, 1987

      8 "Familial myotubular myopathy" 19 : 901-908, 1969

      9 "Familial centronuclear myopathy: a clinical and pathological study" 17 : 727-742, 1967

      10 "Familial centronuclear myopathy associated with 'cardiomyopathy'" 38 : 504-509, 1976

      11 "Familial centronuclear myopathy" 33 : 687-693, 1970

      12 "Congenital myopathies and related disorders" 15 : 553-561, 2002

      13 "Congenital myopathies and congenital muscular dystrophies" 14 : 575-582, 2001

      14 "Centronuclear myopathy: possible central nervous system origin" 1 : 62-69, 1978

      15 "Centronuclear myopathy: Clinical aspects of ten Brazilian patients with childhood onset" 158 : 76-82, 1998

      16 "Centronuclear myopathy with special consideration of the adult form" 23 : 425-434, 1984

      17 "Centronuclear myopathy with autosomal dominant inheritance" 15 : 375-387, 1972

      18 "Centronuclear myopathy in old age" 108 : 237-247, 1972

      19 "Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns" 41 : 135-140, 1991

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      유사연구자 (20) 활용도상위20명

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2011-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2009-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2007-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2005-05-31 학술지등록 한글명 : Yonsei Medical Journal
      외국어명 : Yonsei Medical Journal
      KCI등재
      2005-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2002-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2000-01-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 1.42 0.3 0.99
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.83 0.72 0.546 0.08
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