Title:
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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
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Journal :
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Brain : a journal of neurology, 139
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Authors:
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Sevilla T, Author ;
Sevilla T ;
Lupo V ;
Martinez-Rubio D ;
Sancho P ;
Sivera R ;
Chumillas MJ ;
Garcia-Romero M ;
Pascual-Pascual SI ;
Muelas N ;
Dopazo J ;
Vilchez JJ ;
Palau F ;
Espinos C
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Material Type:
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Article
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Publication Date:
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01/2016
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Size:
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p 62
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Languages:
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English
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Keywords :
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axonal forms of CMT
;
CMT2Z
;
cross-sectional study
;
electrodiagnosis
;
electron microscopy
;
family trees
;
fasciculations
;
gene identification
;
genetic mutations
;
MORC2 gene
;
MRI
;
muscle wasting
;
muscle weakness
;
myokimia
;
nerve biopsies
;
phenotypic heterogeneity
;
sensitive disorders
;
sequencing
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Keywords:
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Charcot-Marie-Tooth disease;MORC2 gene;Schwann cell;axonal degeneration;whole-exome sequencing
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Abstract:
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Comment in
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. [Brain. 2016]
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. [Brain. 2016]
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. [Brain. 2016]
High intra-familiar clinical variability in MORC2 mutated CMT2 patients. [Brain. 2017]
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Pubmed / DOI :
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DOI : 10.1093/brain/awv311 / Pubmed : 26497905
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Link for e-copy:
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http://www.ncbi.nlm.nih.gov/pubmed/26497905
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See also :
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