Marinesco-Sjogren syndrome, Fanfare, and more

Neuromuscular Disorders

Volumn 18, Issue 2, 2008, Pages 185-188

  Merlini, Luciano ^a  

^a Section of Medical Genetics Department of Experimental and Diagnostic Medicine   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; FAMILIAL DISEASE; GIPSY; GROWTH DISORDER; HUMAN; LINKAGE ANALYSIS; MARINESCO SJOGREN SYNDROME; MYOGLOBINURIA; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; ROMANIA;

GYPSIES; HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMANS; ROMANIA; SPINOCEREBELLAR DEGENERATIONS;

EID: 39649101690     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.11.007     Document Type: Article

References (16)

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2. Sjogren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confin Neurol 10 5 (1947) 293-308
3. Garland H., and Moorhouse D. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. J Neurol Neurosurg Psychiatry 16 2 (1953) 110-116
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11. Merlini L., Gooding R., Lochmuller H., et al. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 58 2 (2002) 231-236
12. Lagier-Tourenne C., Chaigne D., Gong J., et al. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet 39 11 (2002) 838-843
13. Varon R., Gooding R., Steglich C., et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35 2 (2003) 185-189
14. Anttonen A.K., Mahjneh I., Hamalainen R.H., et al. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 37 12 (2005) 1309-1311
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