GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Autor:	Daiga Murmane, Elina Millere, Jekaterina Isakova, Sabine Kovale, Ruta Terauda, Viktorija Kenina, Linda Gailite, Gita Taurina
Rok vydání:	2021
Předmět:	congenital hereditary and neonatal diseases and abnormalities business.industry Extended family Disease Bioinformatics Molecular diagnostics Phenotype nervous system diseases Tooth disease Neurological investigation Female patient Medicine Neurology (clinical) business Gene
Zdroj:	Case Reports in Neurology. 13:422-428
ISSN:	1662-680X
DOI:	10.1159/000515170
Popis:	X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants – p.Val139Met and p.Arg215Trp. In both the families, neurological symptoms started earlier in male than in female patients. In some family members, molecular diagnostics was performed prior to neurological investigation due to family cascade screening. There was variable neurological phenotype representing CMT. Conclusions: There is a large clinical heterogeneity in CMTX, even amongst the family members.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::626dbae799a065365b387cc63f0f9d90 https://doi.org/10.1159/000515170 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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