Linked Life Data

9713859

Source:http://linkedlifedata.com/resource/pubmed/id/9713859

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-11-6
pubmed:abstractText
We present a father and son with congenital foot deformity. The father at age 41 years used crutches and the son at 7 years walked unaided. Both had atrophy and weakness of lower leg muscles and mild proximal and hand intrinsic weakness. Knee and ankle myotactic reflexes were absent and sensation was intact. Creatine kinase level was normal, nerve conduction studies wer normal and electromyography showed chronic neurogenic change. In both, nerve biopsies were normal and muscle biopsies showed type 1 predominance. The boy's serum hexosaminidase, spinal MRI and SMN gene were normal. This may be the first well documented example of congenital autosomal dominant distal spinal muscular atrophy affecting legs and arms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
405-8
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Congenital autosomal dominant distal spinal muscular atrophy.
pubmed:affiliation
Department of Pediatrics, Alberta Childrens Hospital, University of Calgary, Canada. coleen.adams@crha-health.ab.ca
pubmed:publicationType
Journal Article, Review, Case Reports