Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.
Hum Genome Var
; 11(1): 29, 2024 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-39143067
ABSTRACT
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotypeâphenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article