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Somatic and germinal mosaicism in a Han Chinese family with laminopathies - European Journal of Human Genetics

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Somatic and germinal mosaicism in a Han Chinese family with laminopathies - European Journal of Human Genetics

“Laminopathies” refers to a wide spectrum of myopathies caused by mutations in the LMNA gene. These myopathies include limb girdle muscular dystrophy type 1B (LGMD1B) and dilated cardiomyopathy 1 A (DCM1A), which are both autosomal dominant neurogenetic diseases. There have been few studies on mosaicism in laminopathies. Herein, a Han Chinese family with laminopathies was enrolled in our study. Genetic analysis revealed that the proband carried a novel splice site mutation, c.

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Somatic and germinal mosaicism in a Han Chinese family with laminopathies - European Journal of Human Genetics

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Somatic and germinal mosaicism in a Han Chinese family with laminopathies - European Journal of Human Genetics

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