ZASPopathy with childhood-onset distal myopathy

Journal of Neurology

Volumn 259, Issue 7, 2012, Pages 1494-1496

  Strach, Katharina ^a,b   Reimann, Jens ^a   Thomas, Daniel ^a   Naehle, Claas P ^a   Kress, Wolfram ^c   Kornblum, Cornelia ^a  

^a UNIVERSITY OF BONN   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Cardiomyopathy; Distal myopathy; MRI; Myofibrillar myopathy; Zaspopathy

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; ZASP PROTEIN;

ADOLESCENT; ADULT; CASE REPORT; CHILDHOOD DISEASE; DISTAL MYOPATHY; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; PRIORITY JOURNAL; REVIEW; TENDON CONTRACTURE; ZASPOPATHY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; DISTAL MYOPATHIES; FAMILY HEALTH; FEMALE; GERMANY; HUMANS; LEG; LIM DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUTATION;

EID: 84864279118     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6543-1     Document Type: Review

References (12)

1. Faulkner G, Pallavicini A, Formentin E et al (1999) ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol 146:465-475 (Pubitemid 29369781)
2. Griggs R, Vihola A, Hackman P et al (2007) Zaspopathy in a large classic late-onset distal myopathy family. Brain 130:1477-1484 (Pubitemid 47355913)
3. Selcen D, Engel AG (2005) Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57:269-276 (Pubitemid 40179865)
4. Vatta M, Mohapatra B, Jimenez S et al (2003) Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42:2014-2027 (Pubitemid 37485581)
5. Olivé MOZ, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I, Goldfarb LG (2011) Clinical and myopathological evaluation of early-and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 21:533-542
6. Selcen D, Engel AG (2011) Myofibrillar myopathies. Handb Clin Neurol 101:143-154
7. Council MR (1986) Aids to the examination of the peripheral nervous system. In: Baillière Tindall, Eastbourne
8. Claeys KG, Fardeau M, Schroder R et al (2008) Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscul Disord 18:656-666
9. Strach K, Sommer T, Grohe C et al (2008) Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 18:475-482
10. De Bleecker JL, Engel AG, Ertl BB (1996) Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 55:563-577 (Pubitemid 26140839)
11. Engel AG (1999) Myofibrillar myopathy. Ann Neurol 46:681-683 (Pubitemid 29518127)
12. Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA (1996) Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 55:549-562 (Pubitemid 26140838)