Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Neuromuscul Disord
; 17(11-12): 955-9, 2007 Dec.
Article
in En
| MEDLINE
| ID: mdl-17825552
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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
/
Genetic Predisposition to Disease
/
Myopathies, Structural, Congenital
/
Dynamin II
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2007
Document type:
Article
Affiliation country:
Francia