Nov, 2019
A Japanese patient with a VCP mutation c.290G > A (p.G97E) presenting a rapid progressive respiratory failure
NEUROLOGY AND CLINICAL NEUROSCIENCE
- Volume
- 7
- Number
- 6
- First page
- 361
- Last page
- 364
- Language
- English
- Publishing type
- Research paper (scientific journal)
- DOI
- 10.1111/ncn3.12330
- Publisher
- WILEY
Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder caused by mutations in the valosin-containing protein (VCP) gene. IBMPFD usually presents progressive limb muscle weakness resulting in wheelchaired after mean course of 9 years with myopathy, and Paget's osteolytic lesions and frontotemporal dementia (FTD) rarely present respiratory failure. Different from previous reports, we reported a Japanese IBMPFD patient with a VCP mutation c.290G > A (p.G97E), presenting a progressive respiratory failure accompanied by wheelchaired in only 6 years after myopathy onset, suggesting unique relationship between clinical severity and c.290G > A (p.G97E) mutation of VCP gene in Japanese.
- Link information
- ID information
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- DOI : 10.1111/ncn3.12330
- ISSN : 2049-4173
- Web of Science ID : WOS:000494230000012