Linked Life Data

7252518

Source:http://linkedlifedata.com/resource/pubmed/id/7252518

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1981-9-25
pubmed:abstractText
Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric lamellar bodies in various forms (myeloid and cabbage bodies). Despite rapid clinical progression, not only necrotic fibers with phagocytosis, as seen in Duchenne dystrophy, but also evidence of regeneration were virtually absent. Continuous destruction of myofibrils by activation of certain lysosomal proteolytic enzymes might be responsible for the production of atrophic fibers.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
141-55
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't