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Human Intermediate Filament Database

References for disease Scapuloperoneal syndrome type Kaeser

All publications related to disease Scapuloperoneal syndrome type Kaeser. To link directly to a specific first author surname click on the required letter below.

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W

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Brain 2007 130(Pt 6) 1485-1496 PubMed: 17439987

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