Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy

Muscle and Nerve

Volumn 45, Issue 5, 2012, Pages 740-742

  Schessl, Joachim ^a   Kress, Wolfram ^b   Schoser, Benedikt ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

ANO5; Anoctamin 5; LGMD2L; Limb girdle muscular dystrophy; Miyoshi muscular dystrophy

Indexed keywords

ADULT; ALTERNATIVE RNA SPLICING; ANOCTAMIN 5 GENE; ARTICLE; CASE REPORT; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; LIMB GIRDLE MUSCULAR WEAKNESS; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

ADULT; CHLORIDE CHANNELS; CREATINE KINASE; DISTAL MYOPATHIES; FEMALE; HOMOZYGOTE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 84859754177     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23281     Document Type: Article

References (14)

1. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9: 314-323.
2. Guglieri M, Straub V, Bushby K, Lochmuller H. Limb-girdle muscular dystrophies. Curr Opin Neurol 2008; 21: 576-584.
3. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-36.
4. Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010; 86: 213-221.
5. Deschauer M, Joshi PR, Glaser D, Hanisch F, Stoltenburg G, Zierz S. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings.]. Nervenarzt 2011; 82: 1596-1603.
6. Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011; 134: 171-182.
7. Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, et al. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 2010; 20: 791-795.
8. Hartzell HC, Yu K, Xiao Q, Chien LT, Qu Z. Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels. J Physiol 2009; 587: 2127-2139.
9. Caputo A, Caci E, Ferrera L, Pedemonte N, Barsanti C, Sondo E, et al. TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science 2008; 322: 590-594.
10. Duran C, Hartzell HC. Physiological roles and diseases of tmem16/anoctamin proteins: are they all chloride channels? Acta Pharmacol Sin 2011; 32: 685-692.
11. Galietta LJ. The TMEM16 protein family: a new class of chloride channels? Biophys J 2009; 97: 3047-3053.
12. Schroeder BC, Cheng T, Jan YN, Jan LY. Expression cloning of TMEM16A as a calcium-activated chloride channel subunit. Cell 2008; 134: 1019-1029.
13. Yang YD, Cho H, Koo JY, Tak MH, Cho Y, Shim WS, et al. TMEM16A confers receptor-activated calcium-dependent chloride conductance. Nature 2008; 455: 1210-1215.
14. Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet 2004; 74: 1255-1261.