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PMP22 wt Allele

Known as: Peripheral Myelin Protein 22 wt Allele, DSS, HNPP 
Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein… 
National Institutes of Health

Related topics

Related topics

9 relations
17p12-p11.2CMT1A geneCharcot-Marie-Tooth Disease, Demyelinating, Type 1eCharcot-Marie-Tooth Disease, Type Ia (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia
Peripheral myelin protein 22 (PMP22) related neuropathies account for over 50% of inherited peripheral neuropathies. A gene copy… 
2016
2016
SEVERE RECURRENT LUNGS INFECTIONS, HYPOGAMMAGLOBULINEMIA AND ATYPICAL HEPATITIS IN A 14-YEAR-OLD BOY WITH A HOMOZYGOUS MUTATION OF Sp110
2014
2014
P974: Study of sympathetic skin response in diabetic patients with soft tissue rheumatism of the hand
2013
2013
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse
2011
2011
Identification of Potent and Selective Human Ecto-Nucleotide Pyrophosphatase/Phosphodiesterase-3 (hNPP3) Inhibitors
NPP3 inhibitors are promising therapeutic agents due to their potential as anti-cancer, anti-metastatic and anti… 
2007
2007
Distal Simetrik Polinöropati Şeklinde Prezente Olan Basınç Felçleri İle Beraber Olan Herediter Nöropati Olgusu
ÖZET: Basınç felçleri ile beraber olan herediter nöropati (HNPP), heterojen bir fenotipe sahiptir. HNPP’de karekteristik olarak… 
2006
2006
Phenotype Variant of the Common Duplication at 17p11.2
not utilizable. Biopsy of the right gastrocnemius muscle revealed a chronic neurogenic pattern. Since the age of 22 years she… 
1998
1998
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
1997
1997
Perineurium talin immunoreactivity decreases in diabetic neuropathy
1995
1995
Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy.
Japanese hereditary neuropathy with liability to pressure palsy (HNPP) patients have a deletion of one peripheral myelin protein… 
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