[3] Neuropathological analysis shows lack of anterior horn motoneurons and severe atrophy of the ventral spinal cord.

In more than 40 families the fetus has been homozygous for A->G substitution (c.432-10A>G) located in intron 3 of GLE1 creating an illegitimate splice acceptor site resulting in nine extra nucleotides in the GLE1 cDNA (GLE1 FinMajor mutation).

[5] A slightly milder phenotype with survival beyond 32nd gestational week also characterized by foetal akinesia, arthrogryposis and anterior horn cell loss (Lethal arthrogryposis with anterior horn cell disease, LAAHD) was also shown to result from mutations in GLE1.

[citation needed] Update in regard to "Only in Finland" - In 1990 around my 28th week gestation my waters broke and ended up in Mercy Hospital, East Melbourne, Victoria, Australia.

He was kept on life support for 12 hours and as this had never been seen before by the hospital they reached out for a known condition and come back with Lethal Multiple Congenital Contraction Syndrome.

Mäkelä-Bengs et al. (1997,1998) performed a genome-wide screening and linkage analysis and assigned the LCCS locus to a defined region of 9q34.