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Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia

MedGen UID:
376236
•Concept ID:
C1847903
•
Disease or Syndrome
Synonym: Charcot-Marie-Tooth neuropathy, dominant intermediate b, with neutropenia
 
OMIM®: 606482

Recent clinical studies

Etiology

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P
Brain 2009 Jul;132(Pt 7):1741-52. Epub 2009 Jun 5 doi: 10.1093/brain/awp115. PMID: 19502294Free PMC Article

Diagnosis

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P
Neuromuscul Disord 2008 Apr;18(4):334-8. Epub 2008 Apr 3 doi: 10.1016/j.nmd.2008.01.005. PMID: 18394888

Clinical prediction guides

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P
Brain 2009 Jul;132(Pt 7):1741-52. Epub 2009 Jun 5 doi: 10.1093/brain/awp115. PMID: 19502294Free PMC Article

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