Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

doi:10.1093/hmg/7.7.1129

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Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

Human molecular genetics - 1 Jul 1998

Yoshida K, Nakamura A, Yazaki M, Ikeda S, Takeda S

Abstract excerpt

X-linked dilated cardiomyopathy (XLDCM) is a clinical phenotype of dystrophinopathy which is characterized by preferential myocardial involvement without any overt clinical signs of skeletal myopathy. To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM, but a pathogenic correlation of these cardiospecific mutations in DMD with the XLDCM phenotype...

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Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

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