An unusual phenotype of late-onset desminopathy

Neuromuscular Disorders

Volumn 23, Issue 11, 2013, Pages 922-923

  Palmio, Johanna ^a   Penttilä, Sini ^a   Huovinen, Sanna ^a   Haapasalo, Hannu ^a   Udd, Bjarne ^a,b,c  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Desminopathy; Hypertrophy; Paravertebral muscles

Indexed keywords

ALPHA CRYSTALLIN; BETA CRYSTALLIN; CREATINE KINASE; DESMIN;

ADULT; ARTICLE; BACK MUSCLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DES GENE; DESMINOPATHY; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; GASTROCNEMIUS MUSCLE; HEART RIGHT BUNDLE BRANCH BLOCK; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; MYOFIBROSIS; MYOPATHY; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERONEUS MUSCLE; PHENOTYPE; PRIORITY JOURNAL; SARTORIUS MUSCLE; SEMITENDINOUS MUSCLE; VASTUS LATERALIS MUSCLE;

DESMINOPATHY; HYPERTROPHY; PARAVERTEBRAL MUSCLES;

DESMIN; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE;

EID: 84884976970     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.06.374     Document Type: Article

References (3)

1. Clemen C.S., Herrmann H., Strelkov S.V., Schröder R. Desminopathies: pathology and mechanisms. Acta Neuropathol 2013, 125:47-75.
2. Fischer D., Kley R.A., Strach K., et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008, 71:758-765.
3. van Spaendonck-Zwarts K.Y., Van Der Kooi A.J., Van Den Berg M.P., et al. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. Neth Heart J 2012, 20:219-228.