Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
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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.
Abstract
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.
참고문헌 (10)
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