Gene Symbol: POMT2
OMIM: 607439Chromosome location: 14q24.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 3 patients/ 3 families | NA | Yanagisawa A et al., 2007Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P, . New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.. Neurology. 2007; 69(12):1254-60 |
| Morocco | NA | NA | 1 patient/1 family | NA | Yanagisawa A et al., 2007Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P, . New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.. Neurology. 2007; 69(12):1254-60 |
References
Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P, New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.Neurology. 2007; 69(12):1254-60