Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

Neurology

Volumn 55, Issue 12, 2000, Pages 1931-1933

  Illarioshkin, Sergei N ^a   Ivanova Smolenskaya, I A ^a   Greenberg, C R ^c   Nylen, E ^c   Sukhorukov, V S ^b   Poleshchuk, V V ^a   Markova, E D ^a   Wrogemann, K ^c  

^a RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^c UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 2P; CLINICAL ARTICLE; DISTAL MYOPATHY; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RUSSIAN FEDERATION;

EID: 0034719093     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.12.1931     Document Type: Article

References (10)

1. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
2. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
3. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
4. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
5. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
6. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
7. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
8. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
9. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
10. Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: Gene analysis, gene expression, and phenotype prediction