The Novel Contiguous Gene Syndrome of Myotubular Myopathy (MTM1), Male Hypogenitalism and Delection in Xq28: Report of the First Familial Case

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F99%3A00001308" target="_blank" >RIV/00216208:11130/99:00001308 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

The Novel Contiguous Gene Syndrome of Myotubular Myopathy (MTM1), Male Hypogenitalism and Delection in Xq28: Report of the First Familial Case

Original language description

Hu et al. (1996) and Laporte et al. (1997) recently proposed a novel contiguous gene syndrome of myotubular myopathy, abnormal male genital development and deletion in Xq28. We studied a family where two male infants, both deceased, had myotubular myopaty and intersecual genitalia.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NE5685" target="_blank" >NE5685: Microdeletion syndromes, genotype-phenotype relations</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

1999

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Cytogenetics and Cell Genetics

ISSN

0301-0171

e-ISSN

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Volume of the periodical

85

Issue of the periodical within the volume

3

Country of publishing house

CH - SWITZERLAND

Number of pages

5

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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