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Charcot-Marie-Tooth Disease, Type Ia (disorder)

Known as: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A, Hereditary Motor and Sensory Neuropathy 1A, Charcot-Marie-Tooth Disease Type 1A 
Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
National Institutes of Health

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Related topics

11 relations
Autosomal dominant inheritanceCMT1A geneFoot DeformitiesFootdrop

Broader (1)

Charcot-Marie-Tooth Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
LITAF Mutations Associated with Charcot-Marie-Tooth Disease 1C Show Mislocalization from the Late Endosome/Lysosome to the Mitochondria
Charcot-Marie-Tooth (CMT) disease is one of the most common heritable neuromuscular disorders, affecting 1 in every 2500 people… 
2013
2013
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.
Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One… 
2013
2013
Exactly Defined Half-Stemmed Polymer Lamellar Crystals with Precisely Controlled Defects’ Locations
We describe highly unconventional situations in which the polymer chain ends remain trapped in and are located in the middle of… 
2009
2009
Changes in 13C/12C of oil palm leaves to understand carbon use during their passage from heterotrophy to autotrophy.
The carbon isotope composition of leaf bulk organic matter was determined on the tropical tree Elaeis guineensis Jacq. (oil palm… 
Review
2001
Review
2001
Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins.
Phenotypes of several heritable disorders including forms of hearing loss, myelin diseases, hypomagnesemia, and cataracts are… 
2001
2001
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders
Abstract The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial… 
Review
2001
Review
2001
Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies
The hereditary motor, sensory and autonomic neuropathies are a heterogeneous group of neurological diseases. The classification… 
2000
2000
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating autosomal recessive motor and sensory neuropathy characterized by… 
1999
1999
Distinct Phenotypes Associated with Increasing Dosage of the PLP Gene: Implications for CMT1A Due to PMP22 Gene Duplication
ABSTRACT: Increased dosage of the proteolipid protein (Plp) gene causes CNS disease (Pelizaeus‐Merzbacher disease [PMD]), which… 
1996
1996
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a… 
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