Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Neurology

Volumn 57, Issue 2, 2001, Pages 271-278

  Aoki, M ^a,b   Liu, J ^a,c   Richard, I ^d   Bashir, R ^e   Britton, S ^d   Keers, S M ^f   Oeltjen, J ^a   Brown, H E V ^a   Marchand, S ^d   Bourg, N ^d   Beley, C ^d   McKenna Yasek, D ^a   Arahata, K ^g   Bohlega, S ^h   Cupler, E ^h   Illa, I ⁱ   Majneh, I ^j   Barohn, R J ^k   Urtizberea, J A ^l   Fardeau, M ^l   Amato, A ^a   Angelini, C ^m   Bushby, K ^f   Beckmann, J S ⁿ   Brown Jr , R H ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c PhageTech   (Canada)

^d GÉNÉTHON   (France)

^e DURHAM UNIVERSITY   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^h KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

ⁱ HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^j UNIVERSITY OF OULU   (Finland)

^k UNIVERSITY OF TEXAS AT DALLAS   (United States)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m UNIVERSITY OF PADOVA   (Italy)

ⁿ WEIZMANN INSTITUTE OF SCIENCE   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSFERLIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC SCREENING; GENOME; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MEDICAL RECORD; MIYOSHI MYOPATHY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035943022     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.2.271     Document Type: Article

References (31)

1. Beyond dystrophin: Current progress in the muscular dystrophies
2. Dystrophin-associated proteins and the muscular dystrophies
3. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
4. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
5. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case
6. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
7. Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes
8. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
9. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
10. Characterization of temperature-sensitive, fertilization-defective mutants of the nematode Caenorhabditis elegans
11. Caenorhabditis elegans fertilization-defective mutants with abnormal sperm
12. Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans
13. C2-domains, structure and function of a universal Ca2+-binding domain
14. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
15. Dysferlin is a plasma membrane protein and is expressed early in human development
16. Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13
17. Direct primer walking on P1 plasmid DNA
18. Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis
19. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
20. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
21. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
22. Imaging methods reveal unexpected patchy lesions in late onset distal myopathy
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24. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
25. Necrotizing myopathy in SJL mice
26. Denervation enhances spontaneous inflammatory myopathy in SJL mice
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28. Myoferlin, a candidate gene and potential modifier of muscular dystrophy
29. Making sense of the limb-girdle muscular dystrophies
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