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hereditary motor and sensory neuropathy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
MFN2
ATP1A1
CMTX3
CMTX2
GJB1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
LE_EGR2_TARGETS_DN
ensheathment of neurons
axon ensheathment
myelination
peripheral nervous system development
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Curated Studies
Most Correlated Studies
Sciatic nerves from MPZ-S63del and CHOP null mice in a Charcot-Marie-Tooth model
Sciatic nerves and motor neurons from GDAP1 exon5 deletion mutants
OMIM - Refsum disease
OMIM - Charcot-Marie-Tooth disease
Mouse Phenotypes - Myopathy
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Literature
Most Relevant Literature
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with m…
Hereditary motor and sensory neuropathy type 4A].
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and …
Wide spectrum of hereditary motor sensory neuropathy (HMSN)].
Molecular pathogenesis of hereditary motor and sensory neuropathy].
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Clinical Trials
Most Relevant Clinical Trials
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale…
L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy
HyQvia in Multifocal Motor Neuropathy
Topiramate for Cryptogenic Sensory Peripheral Neuropathy in Metabolic Syndrome (CSPN)
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