Congenital hypomyelinating neuropathy 1, autosomal dominant

MedGen UID:: 940521
•Concept ID:: CN257485
•: Disease or Syndrome

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital hypomyelinating neuropathy
- CROGVCharcot-Marie-Tooth disease type 4E
- Congenital hypomyelinating neuropathy 1, autosomal dominant
- CROGVNeuropathy, congenital hypomyelinating, 2
- CROGVNeuropathy, congenital hypomyelinating, 3

Congenital hypomyelinating neuropathy
- Congenital hypomyelinating neuropathy 1, autosomal dominant

Recent clinical studies

Etiology

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM
Neuromolecular Med 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43. PMID: 16775366

Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N
J Neurol Neurosurg Psychiatry 2001 Jan;70(1):123-6. doi: 10.1136/jnnp.70.1.123. PMID: 11118262 Free PMC Article

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Diagnosis

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C
Neurology 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. PMID: 10371530

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Congenital hypomyelinating neuropathy 1, autosomal dominant

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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