OMIM: 613156Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | POMT2 |
|---|
| Dna Change: | c.1997A>G |
|---|
| Protein Change: | p.Tyr666Cys |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 19 |
|---|
| Transcript: | NM_013382.5 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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