title: A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
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.
authors.affiliation: INSERM, U582, Institut de Myologie, Paris (F-75013), France. m.bitoun@institut-mykologie.org
authors.forename: Marc
authors.initials: M
authors.lastname: Bitoun
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.forename: Bernard
authors.initials: B
authors.lastname: Prudhon
authors.forename: Claude-Alain
authors.initials: CA
authors.lastname: Maurage
authors.forename: Philippe
authors.initials: P
authors.lastname: Latour
authors.forename: Patrick
authors.initials: P
authors.lastname: Vermersch
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D034285:Dynamin II / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017385:Sequence Homology
chemical_list: D034285:Dynamin II