Abstract | BACKGROUND: CASE REPORT: Two unrelated patients presented with slowly progressive or nonprogressive proximal muscle weakness since childhood. Their family history revealed some members with the same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon 101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A). CONCLUSIONS: We report herein two families with CCD in whom missense mutations at the C-terminal of RYR1 were identified. Although it has been accepted that such mutations are usually associated with a severe clinical phenotype and clearly demarcated central cores, our patients exhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities, and atypical cores in their muscle biopsy specimens.
|
Authors | Na-Yeon Jung, Yeong-Eun Park, Jin-Hong Shin, Chang Hun Lee, Dae-Soo Jung, Dae-Seong Kim |
Journal | Journal of clinical neurology (Seoul, Korea)
(J Clin Neurol)
Vol. 11
Issue 1
Pg. 97-101
(Jan 2015)
ISSN: 1738-6586 [Print] Korea (South) |
PMID | 25628744
(Publication Type: Journal Article)
|