Linked Life Data

4061404

Source:http://linkedlifedata.com/resource/pubmed/id/4061404

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1985-11-22
pubmed:abstractText
Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0002-922X
pubmed:author
pubmed:issnType
Print
pubmed:volume
139
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1090-2
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.
pubmed:publicationType
Journal Article, Case Reports