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- Title
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.
- Authors
Gao-Hui Cao; Mei-Fang Zhao; Yi Dong; Liang-Liang Fan; Yi-Hui Liu; Yao Deng; Lu-Lu Tang
- Abstract
This report presents a case of Charcot-Marie-Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot-Marie-Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C>A/p. His49Asn) of MPZ may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of MPZ, was neutral. Our study expands the variant spectrum of MPZ and the number of identified CMTDID patients, contributing to a better understanding of the relationship between MPZ and CMTDID.
- Subjects
MYELIN proteins; CHARCOT-Marie-Tooth disease; FOOT abnormalities; CALF muscles; MUSCULAR atrophy
- Publication
Frontiers in Neurology, 2024, p1
- ISSN
1664-2295
- Publication type
Article
- DOI
10.3389/fneur.2024.1319962