Art

J-GLOBAL ID：200902186375579845   Reference number：00A0795116

An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy.

拡張型心筋症を呈した若年型neuronal ceroid-lipofuscinosisの一剖検例

Author (6)： TOMIYASU HITOSHI (東海大 医) ,  TAKAHASHI WAKO (東海大 医) ,  OTA TAMI (東海大 医) ,  YOSHII FUMIHITO (東海大 医) ,  SHIBUYA MAKOTO (東海大 医) ,  SHINOHARA YUKITO (東海大 医)
Material： 臨床神経学  (Clinical Neurology)
Volume： 40  Issue： 4  Page： 350-357  Publication year： Apr. 01, 2000 
JST Material Number： Z0689A  ISSN： 0009-918X  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *nyctalopia ,...
Semi thesaurus term： mental retardation ,...

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JST classification (1)： Nervous system diseases  (GN03000O)

Reference (19)：

• ZEMAN, W. The neuronal ceroid-lipofuscinosis. Progress in Neuropathology. 1976, 3, 203-223
• JARVELA, I. Infantile neuronal ceroid lipofuscinosis (CLN 1) : linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN 2) represents a nonallelic locus. Genomics. 1991, 10, 333-337
• SHARP, JD. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet. 1997, 6, 591-595
• KLOCKARS, T. Efficient construction of a physical map by fiber-fish of the CLN 5 region : Refined assignment and long-range contig covering the critical region l3q22. Genomics. 1996, 35, 71-78
• GARDINER, RM. Batten disease (Spielmeyer-Vogt ; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics. 1990, 8, 387-390

Terms in the title (3)： 拡張型心筋症 ,  若年 ,  剖検