[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
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.
Kiphuth
I C
IC
Neurologische Klinik, Universitätsklinik Erlangen, Deutschland. ines-christine.kiphuth@ukerlangen.de
Neuen-Jacob
E
E
Struffert
T
T
Wehner
M
M
Wallefeld
W
W
Laing
N
N
Schröder
R
R
D000328:Adult; D024722:Cardiac Myosins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D051457:Hyaline Cartilage / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics*; D009218:Myosins / Q000235:genetics* / Q000378:metabolism*
C501641:MYH7 protein, human; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins