Linked Life Data

3974805

Source:http://linkedlifedata.com/resource/pubmed/id/3974805

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1985-4-10
pubmed:abstractText
Two Japanese siblings had lipid storage myopathy with hypertrophic cardiomyopathy (HCM). They had slowly progressive muscle weakness and ventricular hypertrophy of the heart evidenced by electrocardiography and echocardiography. Their developmental milestones were normal until three years of age when mild weakness in the lower limbs became evident. Laboratory examination showed transient high creatine kinase levels (CK) and hyperammonemia. Histochemical investigation on the muscles revealed abnormal accumulation of sudanophilic lipid droplets predominantly in type 1 fibers, type 2 A fiber atrophy and type 2 B fiber deficiency. In case 1, excessive lipid droplets were also observed in the biopsied cardiac muscle. Carnitine was decreased in the skeletal muscles and the serum. Treatment with DL-carnitine to both cases resulted in marked clinical improvement and decreased lipid droplets in the muscles.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
6-12
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.
pubmed:publicationType
Journal Article, Case Reports