A novel mutation in the dynamin 2 gene in a CMT type 2 patient: Clinical and pat

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A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type

2 patient: Clinical and pathological findings

Neuromuscular Disorders Vol. 18 Issue 4 334-338 April 2008

Marc Bitounab1, Stojkovicc1, Bernard Prudhonab, Claude-Alain

Mauraged, Philippe Latoure, Vermerschf, Pascale Guicheneyabg

Abstract

Mutations in dynamin 2 (DNM2) have been associated with autosomal

dominant centronuclear myopathy, dominant intermediate Charcot-Marie-

Tooth (CMT) type B and CMT2. Here, we report a novel DNM2 mutation in

the Pleckstrin homology domain of DNM2 (p.K559del) in a patient with

an axonal length-dependent sensorimotor polyneuropathy predominantly

affecting the lower limbs. Neuropathy is associated with congenital

cataracts, ophthalmoparesis, ptosis and neutropenia. There was no

evidence of a skeletal myopathy on EMG or muscle biopsy. We suggest

that this constellation of clinical features can help the diagnosis

and selection of patients for direct DNM2 genetic analysis.