期刊
NEUROLOGY
卷 66, 期 5, 页码 752-754出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000201275.18875.ac
关键词
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资金
- Telethon [GTF02008] Funding Source: Medline
An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.
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