... gene have been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single ... gene lead to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of ...

... in the extracellular matrix. ANK ANKH_HUMAN ankylosis, progressive homolog (mouse) FLJ27166 HANK MANK progressive ankylosis protein SLC62A1 Tests of ANKH PubMed CHONDROCALCINOSIS ...

... a diagnosis for a more severe condition called progressive familial intrahepatic cholestasis type 2 (described below) when ... cause a severe form of liver disease called progressive familial intrahepatic cholestasis type 2 (PFIC2). PFIC2 is ...

... identified in people with an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that ... lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition ...

... joint movement (hypermobility); weak muscle tone (hypotonia); severe, progressive curvature of the spine (kyphoscoliosis) that can interfere ... cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum ...

... lipofuscinosis, neuronal 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) CLN8_HUMAN EPMR FLJ39417 Tests ...

... the MAPT gene have been found to cause progressive supranuclear palsy. However, mutations in this gene appear ... been associated with an increased risk of developing progressive supranuclear palsy. This polymorphism, known as the H1 ...

... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated ...

... gene have been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single ... gene lead to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of ...

... are frequently responsible for an eye condition called progressive external ophthalmoplegia, another POLG-related disorder. This condition ... at least 67 POLG gene variants that cause progressive external ophthalmoplegia. Most POLG gene variants change single ...