Aprataxin mutations are a rare cause of early onset ataxia in Germany.
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Aprataxin mutations are a rare cause of early onset ataxia in Germany. / Habeck, Matthias; Zühlke, Christine; Bentele, Karl H. P.; Unkelbach, Stephan; Kress, Wolfram; Bürk, Katrin; Schwinger, Eberhard; Hellenbroich, Yorck.
In: J NEUROL, Vol. 251, No. 5, 5, 2004, p. 591-594.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Aprataxin mutations are a rare cause of early onset ataxia in Germany.
AU - Habeck, Matthias
AU - Zühlke, Christine
AU - Bentele, Karl H. P.
AU - Unkelbach, Stephan
AU - Kress, Wolfram
AU - Bürk, Katrin
AU - Schwinger, Eberhard
AU - Hellenbroich, Yorck
PY - 2004
Y1 - 2004
N2 - Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.
AB - Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.
M3 - SCORING: Zeitschriftenaufsatz
VL - 251
SP - 591
EP - 594
JO - J NEUROL
JF - J NEUROL
SN - 0340-5354
IS - 5
M1 - 5
ER -