## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i
Missense mutation (I143T) in a Japanese patient with Canavan disease
β Scribed by Keiko Kobayashi; Seiichi Tsujino; Takanori Ezoe; Hiroshi Hamaguchi; Kenji Nihei; Norio Sakuragawa
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 175 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM