|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0011696,
umls-concept:C0015127,
umls-concept:C0017337,
umls-concept:C0026848,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0332621,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1407029,
umls-concept:C1515568
|
|
pubmed:issue |
7
|
|
pubmed:dateCreated |
2000-11-3
|
|
pubmed:abstractText |
To determine the cause and pathogenic mechanisms of a 21-year-old patient's cardioskeletal myopathy. The patient's muscle atrophy and weakness began in distal parts of limbs; cardiac and facial muscles were later involved.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Oct
|
|
pubmed:issn |
0028-3878
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
10
|
|
pubmed:volume |
55
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
986-90
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
|
|
pubmed:year |
2000
|
|
pubmed:articleTitle |
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
|
|
pubmed:affiliation |
First Department of Internal Medicine, Akita University School of Medicine, Hondo, Japan. masashir@med.akita-u.ac.jp
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
