Late onset in dysferlinopathy widens the clinical spectrum

Neuromuscular Disorders

Volumn 18, Issue 4, 2008, Pages 288-290

  Klinge, L ^a   Dean, A F ^b   Kress, W ^c   Dixon, P ^d   Charlton, R ^a   Muller J S ^a   Anderson, L V ^a   Straub, V ^a   Barresi, R ^a   Lochmuller H ^a   Bushby, K ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d East Suffolk and North Essex NHS Foundation Trust   (United Kingdom)

Author keywords

Dysferlin; Late onset; Muscular dystrophy

Indexed keywords

DYSFERLIN;

AGED; ARTICLE; CASE REPORT; DISEASE COURSE; DYSFERLINOPATHY; EXERCISE; FEMALE; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; LEG MUSCLE; MUSCLE BIOPSY; MUSCLE STIFFNESS; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SYMPTOM;

AGED; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 42649088396     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.01.004     Document Type: Article

References (14)

1. Bashir R., Britton S., Strachan T., et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20 (1998) 37-42
2. Liu J., Aoki M., Illa I., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20 (1998) 31-36
3. Illa I., Serrano-Munuera C., Gallardo E., et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49 (2001) 130-134
4. Nguyen K., Bassez G., Krahn M., et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64 (2007) 1176-1182
5. Ueyama H., Kumamoto T., Horinouchi H., et al. Clinical heterogeneity in dysferlinopathy. Intern Med 41 (2002) 532-536
6. Illarioshkin S.N., Ivanova-Smolenskaya I.A., Greenberg C.R., et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55 (2000) 1931-1933
7. Bansal D., Miyake K., Vogel S.S., et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423 (2003) 168-172
8. Huang Y., Laval S.H., van Remoortere A., et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 21 (2007) 732-742
9. Klinge L., Laval S., Keers S., et al. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 21 (2007) 1768-1776
10. http://www.fruitfly.org/seq_tools/splice.html.
11. McNally E.M., Ly C.T., Rosenmann H., et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 91n (2000) 305-312
12. Nguyen K., Bassez G., Bernard R., et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 26 (2005) 165
13. Sinnreich M., Therrien C., and Karpati G. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 66 (2006) 1114-1116
14. Kress W., Schmidt S.R., Halliger-Keller B., et al. The genetic defect of the alkaptonuric mouse (aku). Mamm Genome 10 (1999) 68-70