期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 54, 期 1, 页码 29-33出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2010.09.009
关键词
RYR1-gene; Congenital myopathy
资金
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Association Francaise contre les Myopathies (AFM)
- Association Institut de Myologie (AIM)
- CNRS
- National Research Agency (ANR), France
- Fundacion para la Investigacion Biomedica, Madrid
Core-rod myopathy is a rare congenital myopathy characterized by the presence of cores and rods in distinct locations in the same or different muscle fibres. This association is linked currently to mutations in RYR1, NEB and ACTA1 genes. We report identical twins who presented with polyhydramnios and loss of fetal motility during pregnancy; hypotonia, arthrogryposis and swallowing impairment at birth; need of immediate respiratory support and death at 27 and 50 days of life. Muscle biopsies, performed at 27 days of life in twin 1 and at 49 days in twin 2, showed the presence of separate cores and rods in the muscle fibres, both at light and electron microscopy. The molecular analysis showed a heterozygous de novo mutation (Ile4898Thr) of the RYR1 gene. The molecular study of ACTA1, TMP2 and TMP3 genes did not show abnormalities. This is the first report of a lethal form of congenital core-rod myopathy. The mutation Ile4898Thr has been previously described in central core disease but not in core-rod myopathy. The report enlarges the phenotypic spectrum of core-rod myopathy and highlights the morphological variability associated to special RYR1 mutations. (C) 2010 Elsevier Masson SAS. All rights reserved.
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