Marinesco-Sjögren syndrome

Ma·ri·nes·co-Gar·land syn·drome

(mah-rē-nes'kō gar'lănd), [MIM*248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome

Marinesco-Sjögren syndrome

An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.
Molecular pathology
Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome.

Garland,

Hugh G., English neurologist. 1903-1967. Bland-White-Garland syndrome - see under BlandMarinesco-Sjögren-Garland syndrome - see under MarinescoGarland-Moorhouse syndrome - Synonym(s): Marinesco-Sjögren syndrome

Marinesco,

Georges, Romanian neurologist, 1863-1938. Marinesco-Radovici reflex - Synonym(s): Radovici signMarinesco-Sjögren-Garland syndrome - a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation. Synonym(s): cataract-oligophrenia syndrome; Torsten Sjögren syndromeMarinesco-Sjögren syndrome - development and mental retardation. Synonym(s): Garland-Moorhouse syndrome; hereditary oligophrenic cerebellolental degeneration; oligophrenic cerebellolenticular degeneration; Sjögren syndrome; Torsten syndromeMarinesco succulent hand - edema of the hand with coldness and lividity of the skin, observed in syringomyelia. Synonym(s): main succulente

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome

单词	marinesco-sjögren syndrome
释义	Marinesco-Sjögren syndrome Ma·ri·nes·co-Gar·land syn·drome (mah-rē-nes'kō gar'lănd), [MIM248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome Marinesco-Sjögren syndrome An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. Molecular pathology Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome. Garland, Hugh G., English neurologist. 1903-1967. Bland-White-Garland syndrome* - see under BlandMarinesco-Sjögren-Garland syndrome - see under MarinescoGarland-Moorhouse syndrome - Synonym(s): Marinesco-Sjögren syndrome Marinesco, Georges, Romanian neurologist, 1863-1938. Marinesco-Radovici reflex - Synonym(s): Radovici signMarinesco-Sjögren-Garland syndrome - a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation. Synonym(s): cataract-oligophrenia syndrome; Torsten Sjögren syndromeMarinesco-Sjögren syndrome - development and mental retardation. Synonym(s): Garland-Moorhouse syndrome; hereditary oligophrenic cerebellolental degeneration; oligophrenic cerebellolenticular degeneration; Sjögren syndrome; Torsten syndromeMarinesco succulent hand - edema of the hand with coldness and lividity of the skin, observed in syringomyelia. Synonym(s): main succulente Sjögren, Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome
随便看	kolesnikov, ivan stepanovich kolesov, anatolii kolesov, anatolii ivanovich kolesov, fedor kolesov, fedor ivanovich kolessa, filaret kolessa, filaret mikhailovich kolettes, ioannis kolff, willem j. kolguev kolguyev kolguyev island kolh kolhapur kolhapur district congress committee kolhapur institute of technology kol, henri hubert van kolhosp kolhoz koliadka koliakov, iakov koliakov, iakov efremovich koliivshchina kolikegan kolima