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Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU, Shy ME. Jerath NU, et al. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29. Muscle Nerve. 2017. PMID: 28164329 Free PMC article.
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/la …
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropat …
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK, Wagstaff JL, Manna PT, Wartosch L, Qamar S, Garman EF, Freund SM, Roberts RC. Ho AK, et al. BMC Biol. 2016 Dec 7;14(1):109. doi: 10.1186/s12915-016-0332-8. BMC Biol. 2016. PMID: 27927196 Free PMC article.
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein cont …
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited perip …
Variants of uncertain significance in the era of next-generation sequencing.
Levkova M, Stoyanova M, Benkova-Petrova M, Georgieva M, Angelova L. Levkova M, et al. J Am Assoc Nurse Pract. 2022 Aug 1;34(8):1018-1021. doi: 10.1097/JXX.0000000000000745. J Am Assoc Nurse Pract. 2022. PMID: 35731603
In case 1, a VUS was found in the LITAF gene, which is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C. In case 2, a VUS was reported in the MEFV gene, which is associated with autosomal recessive and autosomal domi …
In case 1, a VUS was found in the LITAF gene, which is associated with autosomal dominant Charcot-Marie-Tooth diseas …