期刊
MUSCLE & NERVE
卷 39, 期 6, 页码 845-848出版社
WILEY
DOI: 10.1002/mus.21271
关键词
Fukutin; FKTN; alpha-dystroglycan; Fukuyama congenital muscular dystrophy; alpha-dystroglycanopathies
资金
- Italian Telethon Foundation [GUP3558, GUP6004]
- EuroBioBank and Telethon Network of Genetic Biobanks [GTB07001F]
Hypoglycosylation of alpha-dystroglycan characterizes a subgroup of muscular dystrophies of variable severity, including Fukuyama congenital muscular dystrophy. We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced alpha-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. Mutations in the fukutin gene can be associated with much milder phenotypes than classical Fukuyama congenital muscular dystrophy, and, although rare, can occur in non-Japanese. Muscle Nerve 39: 845-848, 2009
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