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KMID : 1189120170140020075
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대한의학유전학회지
2017 Volume.14 No. 2 p.75 ~ p.79
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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
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Kim Da-Hye
Kim Yoon-Myung
Seo Go-Hun
Kim Gu-Hwan
Yoo Han-Wook
Yum Mi-Sun
Ko Tae-Sung
Lee Beom-Hee
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Abstract
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Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.
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KEYWORD
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Becker muscular dystrophy, Duchenne muscular dystrophy, Mutation
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