The Shortest Expanded Allele of the MJD1 Gene in a Chinese MJD Kindred with Autonomic Dysfunction

Author:

Gu Weihong,Ma Huizi,Wang Kang,Jin Miao,Zhou Yongxing,Liu Xingzhou,Wang Guoxiang,Shen Yan

Publisher

S. Karger AG

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. Rosenberg RN: Joseph disease: An autosomal dominant motor system degeneration; in de Jong JN (ed): Handbook of Clinical Neurology. Rev. series. Hereditary Neuropathies and Spinocerebellar Atrophies. New York, Elsevier, 1991, vol 16, pp 467-479.

2. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy

3. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

4. Autosomal dominant motor system disease of the Portuguese: A review

5. Pure cerebellar ataxia phenotype in Machado-Joseph disease

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