Clinical heterogeneity in dysferlinopathy

Internal Medicine

Volumn 41, Issue 7, 2002, Pages 532-536

  Ueyama, Hidetsugu ^a   Kumamoto, Toshihide ^a   Horinouchi, Hideo ^a   Fujimoto, Shin ^a   Aono, Hiroshi ^a   Tsuda, Tomiyasu ^a  

^a OITA UNIVERSITY   (Japan)

Author keywords

Autosomal recessive; Dysferlin; Genotype; Limb girdle muscular dystrophy 2B; Miyoshi myopathy; Phenotype

Indexed keywords

CREATINE KINASE; DYSFERLIN; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

ADULT; ANTERIOR TIBIAL SYNDROME; ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE COURSE; DYSFERLINOPATHY; FEMALE; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; ONSET AGE; PARAMETER; PHENOTYPE; PROTEIN DEFECT; ADOLESCENT; BLOOD; CHILD; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; MIDDLE AGED; MUSCULAR DYSTROPHY; MUTATION; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CHILD; CREATINE KINASE; ELECTROMYOGRAPHY; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036022277     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.41.532     Document Type: Article

References (32)

1. Invited review. Making sense of the limb-girdle muscular dystrophies
2. Molecular basis ofmuscular dystrophies
3. Report of the 30th and 31st ENMC International Workshop: The limb-girdle muscular dystrophies and proposal for a new nomenclature
4. A gene for autosomal recessive limb- girdle muscular dystrophy maps to chromosome 2p
5. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case
6. Autosomal recessive distal dystrophy
7. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
8. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
9. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
10. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
11. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
12. A nematode gene required for sperm vesicle fusion
13. Dysferlin is a plasma membrane protein and is expressed early in human development
14. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
15. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
16. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
17. Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
18. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
19. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
20. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
21. Dysferlinopathy (LGMD2B): A 23-year follow-up study of 1O patients homozygous for the same frameshifting dysferlin mutations
22. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
23. Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene
24. A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
25. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
26. Limb-girdle muscular dystrophy and Miyoshi myopathy in an Aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
27. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
28. A large inbred Palestinian family with two forms of muscular dystrophy
29. Progressive Muscular Dystrophy and the Myotonic Disorders
30. Two sisters with autosomal recessive muscular dystrophy (Miyoshi) with early involvement of limb girdle muscles
31. Reported cases of Miyoshi distal muscular dystrophy (1967- 1994) and muscular atrophy of limb-girdle type seen in the early stage of the disease
32. The earliest pathologic alterations in dysferlinopathy