| Abstract | Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy, mild cognitive impairment, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene. This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied. |
| Authors | Andoni Echaniz-Laguna, Anne-Sophie Nicot, Sophie Carré, Jérôme Franques, Christine Tranchant, Nicolas Dondaine, Valérie Biancalana, Jean-Louis Mandel, Jocelyn Laporte
(Affiliation: Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. Echaniz-Laguna at medecine.u-strasbg.fr)
|
| Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 17
Issue 11-12
Pg. 955-9
(Dec 2007)
ISSN: 0960-8966 England |
| PMID | 17825552
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Genetic Markers
- Dynamin II
|
| Topics |
- Adolescent
- Adult
- Axons
(metabolism, pathology)
- Cerebral Cortex
(metabolism, physiopathology)
- Charcot-Marie-Tooth Disease
(genetics, metabolism, physiopathology)
- Cognition Disorders
(genetics, metabolism, physiopathology)
- Comorbidity
- DNA Mutational Analysis
- Dynamin II
(genetics)
- Female
- Genetic Markers
(genetics)
- Genetic Predisposition to Disease
(genetics)
- Genetic Screening
- Genotype
- Humans
- Male
- Muscle, Skeletal
(metabolism, pathology, physiopathology)
- Mutation
(genetics)
- Myopathies, Structural, Congenital
(genetics, metabolism, physiopathology)
- Peripheral Nervous System Diseases
(genetics, metabolism, physiopathology)
|
