Associated Papers
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
Louhichi N et al.
Archives De L'institut Pasteur De Tunis, 2006
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Louhichi N et al.
Neurogenetics, 2004
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Topaloglu H et al.
Neurology, 2003
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