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.

Proteinaggregationsmyopathie - Myosinspeichermyopathie - MYH7 - Mutation

protein aggregate myopathy - myosin storage myopathy - MYH7 - mutation

Literatur

• 1 Goebel H H, Laing N G. Actinopathies and myosinopathies.  Brain Pathol. 2009;  19 516-522
• 2 Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide.  Brain Pathol. 2009;  19 483-492
• 3 Tajsharghi H, Thornell L E, Lindberg C. et al . Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.  Ann Neurol. 2003;  54 494-500
• 4 Bohlega S, Abu-Amero S N, Wakil S M. et al . Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.  Neurology. 2004;  62 1518-1521
• 5 Cancilla P A, Kalyanaraman K, Verity M A. et al . Familial myopathy with probable lysis of myofibrils in type I fibers.  Neurology. 1971;  21 579-585
• 6 Dye D E, Azzarelli B, Goebel H H. et al . Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.  Neuromuscul Disord. 2006;  16 357-360
• 7 Engel A, Baker B. Ultrastructural changes in diseased muscle. Engel AG, Franzini-Armstrong C Myology New York; McGraw-Hill 1994: 889-1017
• 8 Tajsharghi H, Oldfors A, Macleod D P. et al . Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.  Neurology. 2007;  68 962
• 9 Bonne G, Carrier L, Richard P. et al . Familial hypertrophic cardiomyopathy: from mutations to functional defects.  Circ Res. 1998;  83 580-593
• 10 Hershberger R E, Parks S B, Kushner J D. et al . Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.  Clin Transl Sci. 2008;  1 21-26
• 11 Klaassen S, Probst S, Oechslin E. et al . Mutations in sarcomere protein genes in left ventricular noncompaction.  Circulation. 2008;  117 2893-2901
• 12 Meredith C, Herrmann R, Parry C. et al . Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).  Am J Hum Genet. 2004;  75 703-708
• 13 Udd B. 165th ENMC International Workshop: distal myopathies 6 – 8th February 2009 Naarden, The Netherlands.  Neuromuscul Disord. 2009;  19 429-438
• 14 Uro-Coste E, Arne-Bes M C, Pellissier J F. et al . Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.  Neuromuscul Disord. 2009;  19 163-166
• 15 Barohn R J, Brumback R A, Mendell J R. Hyaline body myopathy.  Neuromuscul Disord. 1994;  4 257-262
• 16 Laing N G, De Ceuterick-Groote C, Dye D E. et al . Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.  Neurology. 2005;  64 527-529
• 17 Sahgal V, Sahgal S. Department of Neurology, Northwestern University Medical School, Chicago, Illinois.  Acta Neuropathol. 1977;  37 225-230
• 18 Bohlega S, Lach B, Meyer B F. et al . Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.  Neurology. 2003;  61 1519-1523
• 19 Masuzugawa S, Kuzuhara S, Narita Y. et al . Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.  Neurology. 1997;  48 253-257
• 20 Onengut S, Ugur S A, Karasoy H. et al . Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3 p22.2–p21.32.  Neuromuscul Disord. 2004;  14 4-9
• 21 Shingde M V, Spring P J, Maxwell A. et al . Myosin storage (hyaline body) myopathy: a case report.  Neuromuscul Disord. 2006;  16 882-886
• 22 Pegoraro E, Gavassini B F, Borsato C. et al . MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.  Neuromuscul Disord. 2007;  17 321-329