Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2006-6-8
pubmed:abstractText
We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
291-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Familial neuromuscular disease with tubular aggregates.
pubmed:affiliation
National Research Council Unit for Muscle Biology and Physiopathology, Institute of General Pathology, University of Padova-ltalia.
pubmed:publicationType
Journal Article, Comparative Study