Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Valerio Pisani, Maria Beatrice Panico, Chiara Terracciano, Emanuela Bonifazi, Giovanni Meola, Giuseppe Novelli, Giorgio Bernardi, Corrado Angelini, Roberto Massa

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

The clinical features of myotonic dystrophy type 1 (DM1) and type 2 (DM2) may present striking similarity, whereas, in some cases, the DM2 phenotype may be so mild that the diagnosis may be missed. Therefore, the identification of disease-specific histopathological patterns for DM1 and DM2 may help clinicians to correctly address genetic studies. We performed a comparative morphological and morphometric analysis on muscle biopsies from 10 DM1 and 11 DM2 patients, comparing type 1 and type 2 fibers as to: fiber type predominance, transverse diameter, atrophy and hypertrophy factors, and prevalence of central nuclei. In DM1 cases we observed preferential type 1 fiber atrophy and a higher prevalence of central nucleation among type 1 fibers in all cases. In DM2 muscle biopsies, high rates of atrophic and hypertrophic type 2 fibers were observed in most cases, and preferential central nucleation in type 2 fibers was present in all cases. As opposed to DM1, in which type 1 fibers display most of the histological changes, preferential atrophy and hypertrophy of type 2 fibers may be considered as markers of DM2. A higher prevalence of central nuclei among hypertrophic type 2 fibers has a predictive value for the diagnosis of DM2. Thus, morphometric and fiber type-based histological analysis of muscle biopsies may help differentiate between DM1 and DM2 and guide molecular analysis.

Original languageEnglish
Pages (from-to)1405-1411
Number of pages7
JournalMuscle and Nerve
Volume38
Issue number5
DOIs
Publication statusPublished - Nov 2008

Fingerprint

Myotonic Dystrophy
Atrophy
Biopsy
Muscles
Hypertrophy
Phenotype

Keywords

  • Central nuclei
  • DM1
  • DM2
  • Muscle biopsy
  • Myotonic dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. / Pisani, Valerio; Panico, Maria Beatrice; Terracciano, Chiara; Bonifazi, Emanuela; Meola, Giovanni; Novelli, Giuseppe; Bernardi, Giorgio; Angelini, Corrado; Massa, Roberto.

In: Muscle and Nerve, Vol. 38, No. 5, 11.2008, p. 1405-1411.

Research output: Contribution to journalArticle

Pisani, V, Panico, MB, Terracciano, C, Bonifazi, E, Meola, G, Novelli, G, Bernardi, G, Angelini, C & Massa, R 2008, 'Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2', Muscle and Nerve, vol. 38, no. 5, pp. 1405-1411. https://doi.org/10.1002/mus.21122
Pisani, Valerio ; Panico, Maria Beatrice ; Terracciano, Chiara ; Bonifazi, Emanuela ; Meola, Giovanni ; Novelli, Giuseppe ; Bernardi, Giorgio ; Angelini, Corrado ; Massa, Roberto. / Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. In: Muscle and Nerve. 2008 ; Vol. 38, No. 5. pp. 1405-1411.
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