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New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia |
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth |
JMD. 2021;14(1):70-74. Published online 2020 October 31 DOI: https://doi.org/10.14802/jmd.20082 |
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore Gene mutations causing autosomal dominant cerebellar ataxia in Japan A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA) Autosomal dominant cerebellar ataxia with progressive pigmentary macular dystrophy Autosomal dominant cerebellar ataxia A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2 A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2 Identification of a Novel MICU1 Nonsense Variant Causes Myopathy with Extrapyramidal Signs in an Iranian Consanguineous Family |
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