Myosinspeichermyopathie: eine seltene Unterform der Proteinaggregationsmyopathien

Zusammenfassung

Myopathien mit pathologischen Proteinaggregationen sind eine numerisch bedeutsame Gruppe der sporadischen und hereditären Muskelerkrankungen. Eine seltene Unterform der Proteinaggregationsmyopathien ist die Myosinspeichermyopathie, die durch heterozygote Mutationen in dem für die schwere Kette des β-Myosins kodierenden Gen (MYH7) verursacht wird. Wir berichten die klinischen, muskelbioptischen und kernspintomografischen Befunde bei dem ersten deutschen Patienten mit einer heterozygoten R 1845W-MYH7-Missensemutation.

Abstract

Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/β-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.

Schlüsselwörter

Proteinaggregationsmyopathie - Myosinspeichermyopathie - MYH7 - Mutation

Keywords

protein aggregate myopathy - myosin storage myopathy - MYH7 - mutation

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