Hereditäre Einschlusskörpermyopathie

Zusammenfassung

Der Begriff der hereditären Einschlusskörpermyopathie (h-IBM) umfasst eine heterogene Gruppe von Muskelerkrankungen, die histopathologisch durch Muskelfaser mit »rimmed vacuoles« und typische zytoplasmatische und intranukleäre filamentäre Einschlüsse charakterisiert wird. Aktuell werden eine autosomal-rezessive Form (h-IBM-2) und zwei autosomal-dominante Formen (h-IBM1 und 3) unterschieden. Im Folgenden werden die klinischen Merkmale und bisherigen pathogenetischen Erkenntnisse dieser drei Formen hereditärer Einschlusskörpermyopathien beschrieben.

Summary

Hereditary inclusion body myopathy (h-IBM) constitutes a heterogeneous group of disorders histologically characterized by muscle fibers with rimmed vacuoles and inclusions consisting filaments. Autosomal-recessive inheritance (h-IBM-2) as well as autosomal-dominant forms (h-IBM1 and 3) are described. In the following we discusse the clinical features und pathological mechanisms of these hereditary inclusion body myopathies.

Schlüsselwörter

Hereditäre Einschlusskörpermyopathie - h-IBM - Klassifikation - Klinik

Keywords

Hereditary inclusion body myopathy - h-IBM - classification - clinical features

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