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Gene Review:

MRXS10 - mental retardation, X-linked, syndromic 10

Homo sapiens

This record was replaced with 3028.

Lenski, C. et al., Bach-y-Rita, P. et al., Abe, M. et al.

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Disease relevance of MRXS10

Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10) [1].
Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein [1].

High impact information on MRXS10

Based on our results during the last 25 years, we are developing late stroke computer-assisted motivating rehabilitation (CAMR) for the upper extremity [2].

Analytical, diagnostic and therapeutic context of MRXS10

The PCR assay, when compared with a Camr assay that we prepared with the DQ52 and JH2 regions of the murine IgH gene, seems to have the following advantages [3].
Computer-assisted motivating rehabilitation (CAMR) for institutional, home, and educational late stroke programs [2].

References

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior. Lenski, C., Frank Kooy, R., Reyniers, E., Loessner, D., Wanders, R.J., Winnepenninckx, B., Hellebrand, H., Engert, S., Schwartz, C.E., Meindl, A., Ramser, J. Am. J. Hum. Genet. (2007) [Pubmed]
Computer-assisted motivating rehabilitation (CAMR) for institutional, home, and educational late stroke programs. Bach-y-Rita, P., Wood, S., Leder, R., Paredes, O., Bahr, D., Wicab Bach-y-Rita, E., Murillo, N. Topics in stroke rehabilitation. (2002) [Pubmed]
V(D)J recombinase activity in primary and secondary murine lymphoid organs: assessment by a PCR assay with extrachromosomal plasmids. Abe, M., Hayashida, K., Takayama, K., Shiku, H. Int. Immunol. (1991) [Pubmed]

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