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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Neurology. 2005 Feb 8;64(3):539-41. doi: 10.1212/01.WNL.0000150588.75281.58.
Neurology. 2005.
PMID: 15699391
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.
Quinzii CM, et al.
Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.
Am J Hum Genet. 2008.
PMID: 18179901
Free PMC article.
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