Laminopathy: A disease due to mutation of the lamin A/C gene. 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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From Wikipedia, the free encyclopedia Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina.
Patent application title: METHODS OF TREATING AND DIAGNOSING LAMINOPATHY Inventors: Qingshen Gao (Lake Forest, IL, US) IPC8 Class: AA61K3816FI USPC Class: 514 12
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Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy