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HWCD Hans-Weber-Christian disease
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
Steinert, Hans <person> German physician, *1875.
See: Steinert's disease.
(05 Mar 2000)
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
Steinert's disease <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting.
A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene).
Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well.
The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene.
Inheritance: autosomal dominant.
(29 Dec 1997)
Bauer, Hans <person> 20th century German anatomist.
See: Bauer's chromic acid leucofuchsin stain.
(05 Mar 2000)
Berger, Hans <person> German neurologist, 1873-1941.
See: Berger rhythm.
(05 Mar 2000)
Buchner, Hans <person> German bacteriologist, 1850-1902.
See: Buchner extract.
(05 Mar 2000)
Geiger, Hans <person> German physicist, 1882-1945.
See: Geiger-Muller counter, Geiger-Muller tube.
(05 Mar 2000)
Gierke, Hans <person> German anatomist, 1847-1886.
See: Gierke's respiratory bundle.
(05 Mar 2000)
Reiter, Hans <person> German bacteriologist, 1881-1969.
See: Reiter test, Reiter's disease, Reiter's syndrome, Fiessinger-Leroy-Reiter syndrome.
(05 Mar 2000)
Goldmann, Hans <person> Swiss ophthalmologist, *1899.
See: Goldmann perimeter, Goldmann's applanation tonometer.
(05 Mar 2000)
Gram, Hans <person> Danish bacteriologist, 1853-1938.
See: Gram's iodine, Gram's stain, Weigert-Gram stain.
(05 Mar 2000)
Chiari, Hans <person> German pathologist, 1851-1916.
See: Arnold-Chiari deformity, Arnold-Chiari malformation, Arnold-Chiari syndrome, Chiari's disease, Chiari's net, Chiari's syndrome, Chiari II syndrome, Chiari-Budd syndrome, Budd-Chiari syndrome.
(05 Mar 2000)
Meyer, Hans <person> German pharmacologist, 1853-1939.
See: Meyer-Overton rule, Meyer-Overton theory of narcosis.
(05 Mar 2000)
Molisch, Hans <person> Austrian chemist, 1856-1937.
See: Molisch's test.
(05 Mar 2000)
Wiedemann, Hans Rudolf <person> German paediatrician, *1915.
See: Beckwith-Wiedemann syndrome.
(05 Mar 2000)
Much, Hans <person> German physician, 1880-1932.
See: Much's bacillus.
(05 Mar 2000)
Wissler, Hans <person> Swiss paediatrician, *1906.
See: Wissler's syndrome.
(05 Mar 2000)
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