Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. - Archive ouverte HAL Access content directly
Journal Articles Orphanet Journal of Rare Diseases Year : 2010

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

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Uluç Yiş
  • Function : Author
  • PersonId : 928238
Ragip Ortaç
  • Function : Author
  • PersonId : 928239
Handan Çakmakçi
  • Function : Author
  • PersonId : 928240
Semra Hiz Kurul
  • Function : Author
  • PersonId : 928241
Eray Dirik
  • Function : Author
  • PersonId : 928242

Abstract

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.
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inserm-00720867 , version 1 (26-07-2012)

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Johann Böhm, Uluç Yiş, Ragip Ortaç, Handan Çakmakçi, Semra Hiz Kurul, et al.. Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.. Orphanet Journal of Rare Diseases, 2010, 5 (1), pp.35. ⟨10.1186/1750-1172-5-35⟩. ⟨inserm-00720867⟩
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