RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-

RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-

Lactic acidosis, hypertrophic cardiomyopathy, muscle weakness and central nervous system impairment could rise suspicion of a mitochondrial disease. Its clinical complexity makes diagnostic process often difficult. While the gravity can range from mild to life-threatening, prenatal testing remains a...

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Main Authors: Andreea Serban, Laurentiu Camil Bohiltea, Cristian Strungaru, Ruxandra Cretu, Daniela Neagos
Format: Article
Language:English
Published: "Alexandru Ioan Cuza" University of Iași 2016-04-01
Series:Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
Online Access:http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/1115
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spelling doaj-16d7f74847d648cfabe626eb9166bb0f2020-11-24T23:21:55Zeng"Alexandru Ioan Cuza" University of IașiAnalele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara 1582-35712248-32762016-04-0115241441082RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-Andreea SerbanLaurentiu Camil BohilteaCristian StrungaruRuxandra CretuDaniela NeagosLactic acidosis, hypertrophic cardiomyopathy, muscle weakness and central nervous system impairment could rise suspicion of a mitochondrial disease. Its clinical complexity makes diagnostic process often difficult. While the gravity can range from mild to life-threatening, prenatal testing remains a valid option only in families with index cases.http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/1115
collection DOAJ
language English
format Article
sources DOAJ
author Andreea Serban
Laurentiu Camil Bohiltea
Cristian Strungaru
Ruxandra Cretu
Daniela Neagos
spellingShingle Andreea Serban
Laurentiu Camil Bohiltea
Cristian Strungaru
Ruxandra Cretu
Daniela Neagos
RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
author_facet Andreea Serban
Laurentiu Camil Bohiltea
Cristian Strungaru
Ruxandra Cretu
Daniela Neagos
author_sort Andreea Serban
title RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
title_short RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
title_full RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
title_fullStr RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
title_full_unstemmed RENATAL DIAGNOSIS IN MITOCHONDRIAL DISEASES -CASE REPORT-
title_sort renatal diagnosis in mitochondrial diseases -case report-
publisher "Alexandru Ioan Cuza" University of Iași
series Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
issn 1582-3571
2248-3276
publishDate 2016-04-01
description Lactic acidosis, hypertrophic cardiomyopathy, muscle weakness and central nervous system impairment could rise suspicion of a mitochondrial disease. Its clinical complexity makes diagnostic process often difficult. While the gravity can range from mild to life-threatening, prenatal testing remains a valid option only in families with index cases.
url http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/1115
work_keys_str_mv AT andreeaserban renataldiagnosisinmitochondrialdiseasescasereport
AT laurentiucamilbohiltea renataldiagnosisinmitochondrialdiseasescasereport
AT cristianstrungaru renataldiagnosisinmitochondrialdiseasescasereport
AT ruxandracretu renataldiagnosisinmitochondrialdiseasescasereport
AT danielaneagos renataldiagnosisinmitochondrialdiseasescasereport
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