Linked Life Data

2646524

Source:http://linkedlifedata.com/resource/pubmed/id/2646524

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1989-4-18
pubmed:abstractText
The Charcot-Marie-Tooth (CMT) syndrome is also referred to as hereditary motor-sensory neuropathy (HMSN). It is not a single disease but has a multitude of genetic causes. The typical clinical characteristics are distal muscle weakness and atrophy, depressed tendon reflexes, often slow motor NCV, and the frequent finding of other similarly affected relatives. The most common variant of this syndrome is HMSN-I showing autosomal dominant inheritance, markedly slow motor NCV and nerve hypertrophy. One form of HMSN-I is linked to the Duffy locus on chromosome 1. There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy. The known biochemical abnormalities, chromosomal locations, clinical findings and genetic counseling of these disorders are reviewed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0733-8619
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
9-23
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome.
pubmed:affiliation
VA Medical Center, University of Washington Medical School, Seattle.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Review