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A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings |
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| Authors: | Bitoun Marc Stojkovic Tanya Prudhon Bernard Maurage Claude-Alain Latour Philippe Vermersch Patrick Guicheney Pascale |
| Affiliation: | aINSERM, U582, Institut de Myologie, Paris (F-75013), France bUPMC Univ Paris 06, UMR_S582, IFR14 Paris, (F-75013), France cCentre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France dService de Neuropathologie, CHU de Lille, Lille, France eService de Neurogénétique Moléculaire,Centre Hospitalier Est, Bron, France fPôle de Neurologie, Centre de référence des maladies Neuromusculaires Nord, CHU de Lille, Lille, France gAP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, F-75013, France |
| 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. |
| Keywords: | Charcot-Marie-Tooth neuropathy Dynamin 2 mutation Clinical findings Muscle biopsy |
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