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- W4235611674 abstract "We thank Pinto et al. for their interest in our article. Pinto and colleagues suggest alternative explanations for the clinical phenotypes of the parents of the proband in the family we recently described [ [1] Menezes M.P. Waddell L. Lenk G.M. et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014; 24: 666-670 Abstract Full Text Full Text PDF PubMed Scopus (14) Google Scholar ]. For the father, they recommend additional gene profile studies to explain the asymptomatic neurological phenotype. We think that the asymptomatic phenotype is consistent with his heterozygosity for the FIG4 null allele and does not require further explanation. While heterozygous null mutations were found in two patients with amyotrophic lateral sclerosis (ALS) [ [2] Chow C.Y. Landers J.E. Bergren S.K. et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet. 2009; 84: 85-88 Abstract Full Text Full Text PDF PubMed Scopus (303) Google Scholar ], another 16 asymptomatic parents of patients with CMT4J are heterozygous for null alleles of FIG4 [ [3] Nicholson G. Lenk G.M. Reddel S.W. et al. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P phosphatase FIG4. Brain. 2011; 134: 1959-1971 Crossref PubMed Scopus (91) Google Scholar ]. Although the disease penetrance in null heterozygotes is not precisely known, an additional explanation for lack of neurological symptoms does not appear necessary." @default.
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- W4235611674 date "2015-04-01" @default.
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- W4235611674 title "Response" @default.
- W4235611674 doi "https://doi.org/10.1016/j.nmd.2014.12.008" @default.
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