Linked Life Data

19130742

Source:http://linkedlifedata.com/resource/pubmed/id/19130742

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-1-9
pubmed:abstractText
Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located myonuclei in a large number of muscle fibers. Recently, different missense mutations in the dynamin 2 gene (DNM2, 19p13.2) have been shown to cause autosomal dominant CNM. We re-evaluated patients with a histopathological diagnosis of CNM and report on the clinical phenotype, the biopsy findings and the genetic results of these patients and review the current literature. Two of the three patients showed an unusually late disease onset (> 40 years). Interestingly, intramuscular nerve fascicles found in the muscle biopsy of a patient harboring the E368K DNM2 mutation contained nerve fibers with disproportionately thin myelin sheaths. Schwann cells of unmyelinated nerve fibers showed abnormal plasma membrane and basal lamina protrusions, indicating peripheral nerve involvement.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0722-5091
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
430-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:articleTitle
Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.
pubmed:affiliation
Muskellabor, Department of Neurology, University Hospital of Bonn, Germany.
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't