[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

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/beta-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.

• Authors: I C Kiphuth, E Neuen-Jacob, T Struffert, M Wehner, W Wallefeld, N Laing, R Schröder
• Journal: Fortschritte der Neurologie-Psychiatrie (Fortschr Neurol Psychiatr) Vol. 78 Issue 4 Pg. 219-22 (Apr 2010) ISSN: 1439-3522 [Electronic] Germany
• Vernacular Title: Myosinspeichermyopathie: eine seltene Unterform der Proteinaggregationsmyopathien.
• PMID: 20376763 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• MYH7 protein, human
• DNA
• Cardiac Myosins
• Myosin Heavy Chains
• Myosins

Topics

• Adult
• Cardiac Myosins (genetics)
• DNA (genetics)
• DNA Mutational Analysis
• Humans
• Hyaline Cartilage (pathology)
• Magnetic Resonance Imaging
• Male
• Metabolic Diseases (genetics, metabolism, pathology)
• Muscle, Skeletal (pathology)
• Muscular Diseases (genetics, metabolism, pathology)
• Mutation, Missense (genetics)
• Myosin Heavy Chains (genetics)
• Myosins (genetics, metabolism)