CareLit · DOI-Nachweis · Klinische Neurophysiologie
Identification of a desmin gene mutation in scapuloperoneal syndrome
DOI 10.1055/s-2007-976371
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Autor:innenMC Walter, P Reilich, A Huebner, D Fischer, M Vorgerd, C Born, BG Schoser, U Klutzny, J Frey, HE Kaeser, H Lochmüller
ZeitschriftKlinische Neurophysiologie
Ausgabe04/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Objective: To delineate the genetic basis of scapuloperoneal syndrome type Kaeser. Background: In 1965, one of the authors reported a kindred with 12 affected members in 5 generations following autosomal dominant inheritance. Age at onset was between 30 and 50 years and followed a slowly progressive course. Histological exmination at autopsy in 1 patient suggested a neurogenic origin, similar to Kugelberg-Welander m…
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Zitierempfehlung
MC Walter, P Reilich, A Huebner, D Fischer, M Vorgerd, C Born, BG Schoser, U Klutzny, J Frey, HE Kaeser, H Lochmüller (2007) Identification of a desmin gene mutation in scapuloperoneal syndrome. Klinische Neurophysiologie (04). https://doi.org/10.1055/s-2007-976371
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