myotilin Mutation Found in Second Pedigree with LGMD1A

This publication has 27 references indexed in Scilit:

• Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
  Nature Genetics, 2000
• Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7
  American Journal of Human Genetics, 1999
• Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31
  American Journal of Human Genetics, 1998
• Filamin Binds to the Cytoplasmic Domain of the β1-Integrin
  Journal of Biological Chemistry, 1998
• Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23
  American Journal of Human Genetics, 1997
• Constitutive and Variable Regions of Z-disk Titin/Connectin in Myofibril Formation: A Dominant-negative Screen.
  Cell Structure and Function, 1997
• β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
  Nature Genetics, 1995
• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
  Cell, 1995
• A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
  Nature Genetics, 1995
• Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
  Cell, 1994