autosomal recessive cmt
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Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 117-127 ◽  
Author(s):  
Shelisa Tey ◽  
Nortina Shahrizaila ◽  
Alexander P. Drew ◽  
Sarimah Samulong ◽  
Khean-Jin Goh ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Whole Exome ◽  
Autosomal Recessive Cmt

An autosomal recessive CMT family with a new mutation in the NDRG1 gene

2013 ◽  
Vol 333 ◽  
pp. e478
Author(s):  
M.T. Goksungur ◽  
Y. Okamoto ◽  
D. Pehlivan ◽  
Z. Matur ◽  
K. Akyüz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Mutation ◽  
Ndrg1 Gene ◽  
Autosomal Recessive Cmt

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

Neurology ◽  
2002 ◽  
Vol 59 (12) ◽  
pp. 1865-1872 ◽  
Author(s):  
E. Nelis ◽  
S. Erdem ◽  
P. Y.K. Van den Bergh ◽  
M.-C. Belpaire-Dethiou ◽  
C. Ceuterick ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Cmt

scholarly journals Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1

1999 ◽  
Vol 7 (8) ◽  
pp. 849-859 ◽  
Author(s):  
Angèle Guilbot ◽  
Nicole Ravisé ◽  
Ahmed Bouhouche ◽  
Philippe Coullin ◽  
Nazha Birouk ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cmt

Clinical and genetic aspects of autosomal recessive CMT

1997 ◽  
Vol 7 (6-7) ◽  
pp. 464-465
Author(s):  
Kamel Ben Othmane ◽  
Julie M. Rochelle ◽  
Ellen Johnson ◽  
Mongi Ben Hamida ◽  
Margaret A. Pericak-Vance ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Cmt
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