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Göteborgs universitets publikationer

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

Författare och institution:
T. Willis (-); Carola Oldfors Hedberg (Institutionen för biomedicin, avdelningen för patologi); Z. Alhaswani (-); R. Kulshrestha (-); C. Sewry (-); Anders Oldfors (Institutionen för biomedicin, avdelningen för patologi)
Publicerad i:
Journal of Neurology, 263 ( 7 ) s. 1427-1433
ISSN:
0340-5354
Publikationstyp:
Artikel, refereegranskad vetenskaplig
Publiceringsår:
2016
Språk:
engelska
Fulltextlänk:
Sammanfattning (abstract):
Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC IIa and MHC IIx, which are important for the functional characteristics of different muscle fiber types. Hereditary myosin myopathies have emerged as an important group of diseases with variable clinical and morphological expression dependent on the mutated isoform, and also the type and location of the mutation. Myosin myopathy with external ophthalmoplegia is associated with mutations in MYH2, encoding for MyHC IIa that is mainly expressed in type 2A muscle fibers and is inherited in dominant as well as recessive manner. We present a family with myopathy with early onset proximal muscle weakness, facial muscle involvement and ophthalmoplegia. Muscle biopsy demonstrated lack of type 2A muscle fibers and genetic work up demonstrated that the disease was caused by a novel recessive MYH2 mutation: c.1009-1G > A resulting in skipping of exon 12, which is predicted to result in a frame shift and introducing at premature stop codon at position 347 (p.Ser337Leufs*11).
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
MEDICIN OCH HÄLSOVETENSKAP ->
Klinisk medicin ->
Neurologi
Nyckelord:
Myopathy, Myosin, MYH2, Ophthalmoplegia, myosin heavy-chain, autosomal-dominant myopathy, missense mutation, iia, gene, expression, Neurosciences & Neurology
Postens nummer:
239635
Posten skapad:
2016-07-28 15:51
Posten ändrad:
2016-08-16 14:37

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