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Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
TLDR
The hexanucleotide repeat expansion in C9ORF72 is a major cause of fALS and apparently sporadic ALS in the Netherlands and may justify genetic testing in patients with sALS.
Multiple interacting gene products may influence susceptibility to malignant hyperthermia
TLDR
Analysis of data from 130 MH nuclear families suggested that variations in more than one gene may influence MH susceptibility in single families.
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.
TLDR
This study supports the view that considerable genetic heterogeneity exists in MH, and finds linkage of the MHS phenotype, as assessed by the European in vitro contracture test protocol, to markers defining a 1-cM interval on chromosome 3q13.1.
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
TLDR
Individuals from eight CCD families were screened for the presence of 13 mutations in the skeletal muscle ryanodine receptor gene, reported previously to be associated with MH and/or CCD: none was detected and there was unequivocal evidence that CCD, in common with MH, is genetically heterogeneous.
Central and Gonadal Hypogonadism in X-Linked Lissencephaly
TLDR
In X-linked lissencephaly with ambiguous genitalia, the gonads are not only structurally dysgenetic but also functionally abnormal, and gonadal function in XLAG is directly tested.
Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.
TLDR
Genetic heterogeneity in the UK MH population, along with the possibility of the presence of two MH genes in some pedigrees, indicates that it would be premature and potentially dangerous to offer diagnosis of MH by DNA based methods at this time.
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
TLDR
Evidence to suggest that at least two further loci exist for MH susceptibility is added, adding to the evidence for considerable genetic heterogeneity in MH and providing a route to further the understanding of the molecular pathology of the condition.
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity
TLDR
To determine the genetic etiology of ADDWOC, genome-wide linkage analysis on members of the Vietnamese-American and Brazilian pedigrees and results demonstrate a locus for ADDW OC on 2q36.1 and also suggest locus heterogeneity forADDWOC.
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
TLDR
It is clearly unreliable at present to offer presymptomatic DNA testing for MH status, even in families in which a mutation has been detected, as part of the mutation-screening program in MH-susceptible individuals.
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
TLDR
Individuals from eight CCD families were screened for the presence of 13 mutations in the skeletal muscle ryanodine receptor gene, reported previously to be associated with MH and/or CCD: none was detected and there was unequivocal evidence that CCD, in common with MH, is genetically heterogeneous.
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