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1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
2. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
3. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
4. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
5. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.SourceInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. Electronic address: christina.czeschik@uni-due.de.
European journal of medical genetics.Eur J Med Genet.2013 Oct 10. pii: S1769-7212(13)00226-7. doi: 10.1016/j.ejmg.2013.09.014. [Epub ahead of print]
Walker-Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of α-dystroglycan and therefore referred to as one of the dystroglycanopathies. The disease family of muscular dystrophy-dystroglycano
PMID 24120487

Fiorillo C, Moro F, Astrea G, Morales MA, Baldacci J, Marchese M, Scapolan S, Bruno C, Battini R, Santorelli FM.SourceMolecular Medicine and Neuromuscular Lab, IRCCS Stella Maris, Pisa, Italy. Electronic address: chiara.fiorillo@inpe.unipi.it.
Neuromuscular disorders : NMD.Neuromuscul Disord.2013 Oct 1. pii: S0960-8966(13)00977-2. doi: 10.1016/j.nmd.2013.09.010. [Epub ahead of print]
Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, inc
PMID 24144914

Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.SourceDepartment of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Molecular genetics and genomics : MGG.Mol Genet Genomics.2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21.
Muscle-eye-brain (MEB) disease is a congenital muscular dystrophy (CMD) phenotype characterized by hypotonia at birth, brain structural abnormalities and ocular malformations. To date, few MEB cases have been reported in China where clinical recognition and genetic confirmatory testing on a research
PMID 23689641