2008
DOI: 10.1212/01.wnl.0000314731.65875.5c
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DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEUROHEPATOPATHY SYNDROME

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Cited by 8 publications
(7 citation statements)
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References 5 publications
(6 reference statements)
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“…The three phenotypes led to a name change from NN to neurohepatopathy (NNH) [4] . Similar syndromes were later reported from Egypt [5] Morocco [6] and Iraq [7] . Familial sensory autonomic neuropathy with arthropathy is different from MPV17-NNH.…”
Section: Introductionsupporting
confidence: 86%
See 1 more Smart Citation
“…The three phenotypes led to a name change from NN to neurohepatopathy (NNH) [4] . Similar syndromes were later reported from Egypt [5] Morocco [6] and Iraq [7] . Familial sensory autonomic neuropathy with arthropathy is different from MPV17-NNH.…”
Section: Introductionsupporting
confidence: 86%
“…The phenotype of this syndrome has been reported from Egypt [5] , Morocco, [6] , and Iraq, [7] These parts of the world are known to have major metal pollutions [13] , [14] , [15] . The implication is that MPV17-NNH is not a unique syndrome limited to the Four Corners region of NM, USA but that it does occur in other areas of the world where similar mutations have been reported and heavy pollution with metals and other neurotoxins has been documented.…”
Section: Discussionmentioning
confidence: 98%
“…Because every individual can be expected to carry heterozygous mutations for several recessive conditions, offspring of consanguineous parents may become homozygous for more than one mutation in unlinked genes, and co‐occurrence of two recessive conditions may mimic a single syndromic disorder. We have previously described this in families with suspected Navajo neurohepatopathy and Usher syndrome [Ebermann et al., ; Ebermann et al., ]. In the WES data of the index patient, there was no indication for such a scenario.…”
Section: Discussionmentioning
confidence: 94%
“…Since there was little homology between breakpoint flanking sequences in exon 27 and intron 27, a mechanism for this large deletion could be non-homologous end-joining, which is thought to be responsible for deletions in genetic diseases (24)(25)(26). Very recently, another large deletion has been reported in an Egyptian patient (6). Thus, our case is the second large deletion in AGL.…”
Section: Discussionmentioning
confidence: 82%
“…A majority of AGL mutations have been point mutations, small deletions, insertions, or splicing mutations. However, a large deletion has been reported in the single case (6). Since eight missense mutations have been reported in AGL (7-10), whether these are responsible for GSD III remains unclear.…”
Section: Introductionmentioning
confidence: 99%