Different phenotypes in dysferlinopathy

Internal Medicine

Volumn 41, Issue 7, 2002, Pages 505-506

  Kurihara, Teruyuki ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Dysferlin; Limb girdle muscular dystrophy; Miyoshi myopathy

Indexed keywords

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

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE CLASSIFICATION; DYSFERLINOPATHY; EDITORIAL; GENE MUTATION; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; JAPAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MEMBRANE DAMAGE; MIYOSHI MYOPATHY; MUSCLE FIBER MEMBRANE; MUSCLE INJURY; MUSCLE WEAKNESS; PHENOTYPE; PROTEIN DEFECT; PROTEIN LOCALIZATION; GENETIC PREDISPOSITION; GENETICS; MUSCULAR DYSTROPHY; NOTE; PATHOPHYSIOLOGY;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; PHENOTYPE;

EID: 0036022270     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.41.505     Document Type: Editorial

References (17)

1. Autosomal recessive inheritance of Duchenne type muscular dystrophy
2. Deficiency ofthe 50K dystrophin associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
3. Missense mutations in the adhalin gene linked autosomal recessive muscular dystrophy
4. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
5. Mutations in dystrophin- associated protein υ-sarcoglycan in chromosome 13 muscular dystrophy
6. Autosomal recessive limb- girdle muscular dystrophy, LGMD 2F, is caused by a mutation in the δ-sarcoglycan gene
7. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
8. Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle
9. Chromosome 15-linked limb- girdle muscular dystrophy: Clinical phenotypes in Réunion Island and French metropolitan communities
10. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
11. Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
12. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
13. Dysferfin is a surface membrane- associated protein that is absent in Miyoshi myopathy
14. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
15. Autosomal recessive distal muscular dystrophy as a new type progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case
16. Clinical heterogeneity in dysferlinopathy
17. The earliest pathologic alterations in dysferlinopathy