U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal cardiomyocyte dystrophin staining

MedGen UID:
1841522
•Concept ID:
C5826359
•
Finding
HPO: HP:0031339

Definition

Anomalous staining of dystrophin in cardiomyocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cardiomyocyte dystrophin staining

Recent clinical studies

Etiology

Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
Kostera-Pruszczyk A, Goudeau B, Ferreiro A, Richard P, Simon S, Vicart P, Fidzianska A
Neuromuscul Disord 2006 Nov;16(11):759-62. Epub 2006 Sep 26 doi: 10.1016/j.nmd.2006.07.025. PMID: 17005401

Diagnosis

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D, Ohno K, Engel AG
Brain 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7 doi: 10.1093/brain/awh052. PMID: 14711882

Therapy

SERCA2a gene transfer improves electrocardiographic performance in aged mdx mice.
Shin JH, Bostick B, Yue Y, Hajjar R, Duan D
J Transl Med 2011 Aug 11;9:132. doi: 10.1186/1479-5876-9-132. PMID: 21834967Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...