Tel Hashomer camptodactyly syndrome: 12-Year follow-up of a Hungarian patient and review

B. Melegh, Katalin Hollódy, Mária Aszmann, K. Méhes

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Tel Hashomer camptodactyly syndrome (THCS) was diagnosed in a 4-month-old boy whom we have followed for 12 years. In addition to the characteristic clinical findings, he had preductal coarctation of the aorta, persistent ductus arteriosus, and multiple ventricular septal defects. The electron-microscopic evaluation of his muscle biopsy showed anomalies of the sarcoplasmic reticulum and mitochondria; the organization of the myofibrils was normal. The morphological findings suggested primary or secondary involvement of neuromuscular signal transduction and involvement of mitochondria in the development of the myopathy in this child.

Original languageEnglish
Pages (from-to)320-323
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number3
DOIs
Publication statusPublished - Jun 15 2005

Fingerprint

Mitochondria
Ductus Arteriosus
Aortic Coarctation
Myofibrils
Ventricular Heart Septal Defects
Sarcoplasmic Reticulum
Muscular Diseases
Signal Transduction
Electrons
Biopsy
Muscles
Tel Hashomer camptodactyly syndrome

Keywords

  • Camptodactyly
  • Mitochondria
  • Muscle ultrastructure
  • Sarcoplasmic reticulum
  • Tel Hashomer syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Tel Hashomer camptodactyly syndrome : 12-Year follow-up of a Hungarian patient and review. / Melegh, B.; Hollódy, Katalin; Aszmann, Mária; Méhes, K.

In: American Journal of Medical Genetics, Vol. 135 A, No. 3, 15.06.2005, p. 320-323.

Research output: Contribution to journalArticle

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