Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam

T. Kraya; W. Kress; D. Stoevesant; M. Deschauer; S. Zierz

doi:10.1007/s00115-012-3689-0

Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam

Translated title of the contribution: Myofibrillary myopathy due to the ZASP mutation Ala147Thr: Two cases with exclusively distal leg involvement

T. Kraya
, W. Kress
, D. Stoevesant
, M. Deschauer
, S. Zierz

Martin Luther University Halle-Wittenberg
University of Würzburg

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Summary: This article describes two patients with late onset myofibrillary myopathy due the ZASP mutation Ala147Thr. The Z-band alternatively spliced PDZ motif containing protein (ZASP) is a sarcomeric protein and interacts with α-actinin at the Z-disk. So far, myopathy due the ZASP mutation Ala147Thr was usually associated with distal and proximal involvement. The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively.

Translated title of the contribution	Myofibrillary myopathy due to the ZASP mutation Ala147Thr: Two cases with exclusively distal leg involvement
Original language	German
Pages (from-to)	209-213
Number of pages	5
Journal	Nervenarzt
Volume	84
Issue number	2
DOIs	https://doi.org/10.1007/s00115-012-3689-0
State	Published - Feb 2013
Externally published	Yes

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title = "Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam",

abstract = "Summary: This article describes two patients with late onset myofibrillary myopathy due the ZASP mutation Ala147Thr. The Z-band alternatively spliced PDZ motif containing protein (ZASP) is a sarcomeric protein and interacts with α-actinin at the Z-disk. So far, myopathy due the ZASP mutation Ala147Thr was usually associated with distal and proximal involvement. The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively.",

keywords = "Late onset distal myopathy, Markesbery-Griggs, Muscle diseases, Myofibrillary myopathy, ZASP",

author = "T. Kraya and W. Kress and D. Stoevesant and M. Deschauer and S. Zierz",

year = "2013",

month = feb,

doi = "10.1007/s00115-012-3689-0",

language = "Deutsch",

volume = "84",

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journal = "Nervenarzt",

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T1 - Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam

AU - Kraya, T.

AU - Kress, W.

AU - Stoevesant, D.

AU - Deschauer, M.

AU - Zierz, S.

PY - 2013/2

Y1 - 2013/2

N2 - Summary: This article describes two patients with late onset myofibrillary myopathy due the ZASP mutation Ala147Thr. The Z-band alternatively spliced PDZ motif containing protein (ZASP) is a sarcomeric protein and interacts with α-actinin at the Z-disk. So far, myopathy due the ZASP mutation Ala147Thr was usually associated with distal and proximal involvement. The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively.

AB - Summary: This article describes two patients with late onset myofibrillary myopathy due the ZASP mutation Ala147Thr. The Z-band alternatively spliced PDZ motif containing protein (ZASP) is a sarcomeric protein and interacts with α-actinin at the Z-disk. So far, myopathy due the ZASP mutation Ala147Thr was usually associated with distal and proximal involvement. The two patients with the ZASP mutation Ala147Thr described here showed only distal involvement of the legs without proximal weakness and involvement of the upper limb 6 and 19 years after onset of muscle weakness, respectively.

KW - Late onset distal myopathy

KW - Markesbery-Griggs

KW - Muscle diseases

KW - Myofibrillary myopathy

KW - ZASP

UR - https://www.scopus.com/pages/publications/84879883280

U2 - 10.1007/s00115-012-3689-0

DO - 10.1007/s00115-012-3689-0

M3 - Artikel

C2 - 23263837

AN - SCOPUS:84879883280

SN - 0028-2804

VL - 84

SP - 209

EP - 213

JO - Nervenarzt

JF - Nervenarzt

IS - 2

ER -

Subakutes Parkinson-Syndrom nach Suizidversuch mit Diazepam

Abstract

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