Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group

[1]  C. Angelini,et al.  Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls , 2015, Muscle & nerve.

[2]  J. England Making sense of the muscular dystrophies: Diagnosis and treatment guideline for limb‐girdle muscular dystrophy , 2014, Muscle & nerve.

[3]  H. Galehdari,et al.  Mitochondrial DNA sequence diversity in three ethnic populations from the South-west Iran: a preliminary study , 2011, Frontiers in Biology.

[4]  A. Masuda,et al.  AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon , 2011, Nucleic acids research.

[5]  Gert Vriend,et al.  Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces , 2010, BMC Bioinformatics.

[6]  C. Angelini,et al.  Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations , 2010, Human mutation.

[7]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[8]  I. Kremensky,et al.  A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients , 2007, Neurogenetics.

[9]  J. Zlotogora Multiple mutations responsible for frequent genetic diseases in isolated populations , 2007, European Journal of Human Genetics.

[10]  I. Richard,et al.  Calpain-3 mutations in Turkey , 2006, European Journal of Pediatrics.

[11]  C. Angelini,et al.  Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes , 2005, Journal of Medical Genetics.

[12]  V. Nigro Molecular bases of autosomal recessive limb-girdle muscular dystrophies. , 2003, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

[13]  A. Superti-Furga,et al.  A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village , 2003, Clinical genetics.

[14]  M. Passos-Bueno,et al.  Clinical variability in calpainopathy: What makes the difference? , 2002, European Journal of Human Genetics.

[15]  G. Valle,et al.  Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin , 2000, Nature Genetics.

[16]  J. Beckmann,et al.  A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey , 1997, Annals of neurology.

[17]  J. Beckmann,et al.  Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. , 1997, American journal of human genetics.

[18]  Isabelle Richard,et al.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A , 1995, Cell.

[19]  S. Paulo.,et al.  Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. , 1993, Journal of medical genetics.

[20]  C Summers,et al.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). , 1989, Nucleic acids research.

[21]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.