Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

A. Prelle, C. Rigoletto, M. Moggio, M. Sciacco, G. P. Comi, P. Ciscato, G. Fagiolari, S. Rapuzzi, V. Bignotti, G. Scarlato

Research output: Contribution to journalArticle

Abstract

We describe a family, two brothers and their mother, who came to our observation because of slight to moderate hyperCKemia. The younger brother, who had the highest CK values, was only suffering from episodic myalgia, the other two members of the family were asymptomatic. Neurological examination was normal. Both brothers underwent muscle biopsy which was significant for the presence of abnormal sarcoplasmic areas of desmin accumulation. So far, desmin abnormalities have never been reported in patients with such a mild neuromuscular pattern. We discuss possible correlations between severity of clinical phenotype and degree of desmin accumulation.

Original languageEnglish
Pages (from-to)132-136
Number of pages5
JournalJournal of the Neurological Sciences
Volume140
Issue number1-2
DOIs
Publication statusPublished - Sep 1 1996

Fingerprint

Desmin
Siblings
Skeletal Muscle
Myalgia
Neurologic Examination
Mothers
Observation
Phenotype
Biopsy
Muscles

Keywords

  • Desmin
  • Desminopathy
  • HyperCKemia

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

Cite this

Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. / Prelle, A.; Rigoletto, C.; Moggio, M.; Sciacco, M.; Comi, G. P.; Ciscato, P.; Fagiolari, G.; Rapuzzi, S.; Bignotti, V.; Scarlato, G.

In: Journal of the Neurological Sciences, Vol. 140, No. 1-2, 01.09.1996, p. 132-136.

Research output: Contribution to journalArticle

Prelle, A. ; Rigoletto, C. ; Moggio, M. ; Sciacco, M. ; Comi, G. P. ; Ciscato, P. ; Fagiolari, G. ; Rapuzzi, S. ; Bignotti, V. ; Scarlato, G. / Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. In: Journal of the Neurological Sciences. 1996 ; Vol. 140, No. 1-2. pp. 132-136.
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AU - Comi, G. P.

AU - Ciscato, P.

AU - Fagiolari, G.

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