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Definition of Laminopathy

Laminopathy: A disease due to mutation of the lamin A/C gene. The lamin family of proteins that make up the nuclear lamina, a matrix of protein located next to the inner nuclear membrane.The laminopathies include: Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb girdle muscular dystrophy type 1B, dilated cardiomyopathy, familial partial lipodystrophy, Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, childhood progeria syndrome (Hutchinson-Gilford syndrome) and a subset of Werner syndrome.

See also: Lamin A/C.

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Reviewed on 12/11/2018
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