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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.7
- 수록면
- 359 - 361 (3page)
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초록· 키워드
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Dear Editor, LAMA2-related muscular dystrophy can be classified into two clinical phenotypes: severe early-onset congenital muscular dystrophy and mild late-onset muscular dystrophy [1]. Several mild form muscular dystrophy cases have been diagnosed since Tan et al [2] reported the first case of late-onset LAMA2-related muscular dystrophy, thus expanding the spectrum of this disease [3 -6]. Late-onset LAMA2-related muscular dystrophy presents clinically as limb girdle muscular dystrophy patterns and is associated with the partial expression of laminin α2 [6]. Here, we describe a novel missense mutation (c.8725T>C/p.Cys2909Arg) in the LAMA2 in a patient diagnosed as having late-onset LAMA2-related muscular dystrophy. This study was approved by the institutional research review board of the Catholic University of Korea, Incheon St. Mary’s Hospital. Written informed consent was obtained from the patient’s parents after they had been briefed about the study.
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참고문헌 (10)
참고문헌 신청
Quijano-Roy S / 2017 / Gene Reviews / University of Washington
Tan E / 1997 / Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency / Neuromuscul Disord 7:85~89
Chan SH / 2014 / Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy / Neuromuscul Disord 24:677~683
Ding J / 2016 / Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy / Brain Dev 38:242~249
Jones KJ / 2001 / The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review / J Med Genet 38:649~657
Tan E / 1997 / Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency / Neuromuscul Disord 7:85~89
Chan SH / 2014 / Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy / Neuromuscul Disord 24:677~683
Ding J / 2016 / Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy / Brain Dev 38:242~249
Jones KJ / 2001 / The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review / J Med Genet 38:649~657
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