Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
Hye Jin Kim,Sang Beom Kim,Hyun Su Kim,Hye Mi Kwon,J. Park,Ah Jin Lee,Si On Lim,Soo Hyun Nam,Young Bin Hong,Ki Wha Chung,Byung-Ok Choi +10 more
Reads0
Chats0
TLDR
This study investigated the clinical, genetic, and neuroimaging spectra of NEFL‐related CMT patients, and results could be helpful in the evaluation of novel NEFL variants and differential diagnosis against other CMT subtypes.Citations
More filters
Journal ArticleDOI
The 2022 Lady Estelle Wolfson lectureship on neurofilaments
TL;DR: The review of Nf across a spectrum of 87 diseases from all parts of medicine is followed by a critical appraisal of 33 meta‐analyses on Nf body fluid levels and considerations for clinical trial design and an outlook for future research.
Journal ArticleDOI
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
Hye Jin Kim,Sang Beom Kim,Hyun Su Kim,Hye Mi Kwon,J. Park,Ah Jin Lee,Si On Lim,Soo Hyun Nam,Young Bin Hong,Ki Wha Chung,Byung-Ok Choi +10 more
TL;DR: This study investigated the clinical, genetic, and neuroimaging spectra of NEFL‐related CMT patients, and results could be helpful in the evaluation of novel NEFL variants and differential diagnosis against other CMT subtypes.
Journal ArticleDOI
Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene-related neuropathy patients.
Lei Liu,Xiaobo Li,Zhiqiang Lin,Yongzhi Xie,Shunxiang Huang,Huadong Zhao,Beisha Tang,Ruxu Zhang +7 more
TL;DR: In this article , the phenotypic and genotypic features of myelin protein zero (MPZ)-related neuropathy and provide baseline data for longitudinal natural history studies or drug clinical trials were characterized.
Journal ArticleDOI
Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
Hua-Chuan Chao,Cheng-Tsung Hsiao,Kuan Lin Lai,Yu Shuen Tsai,Kon-Ping Lin,Yi-Chu Liao,Yi-Chung Lee +6 more
TL;DR: In this paper , the clinical characteristics and genetic spectrum of NEFL-related neuropathy in a Taiwanese CMT cohort were analyzed using Sanger sequencing or targeted resequencing. And the authors highlighted that ulnar motor nerve conduction velocities (MNCV) above 25 m/s and central nervous system involvement may serve as diagnostic clues for NEFL related neuropathy.
Journal ArticleDOI
Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
Liu Lei,Li Xiaobo,Lin Zhiqiang,Xie Yongzhi,Huang Shunxiang,Zhao Huadong,Tang Beisha,Zhang Ruxu +7 more
TL;DR: In this article , the authors characterize the phenotypic and genotypic features of myelin protein zero (MPZ) related neuropathy and provide baseline data for longitudinal natural history studies or drug clinical trials.
References
More filters
Journal ArticleDOI
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards,Nazneen Aziz,Nazneen Aziz,Sherri J. Bale,David P. Bick,Soma Das,Julie M. Gastier-Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine B. Spector,Karl V. Voelkerding,Heidi L. Rehm +12 more
TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Journal ArticleDOI
Fatty muscle degeneration in cuff ruptures. Pre- and postoperative evaluation by CT scan
TL;DR: A preoperative computed tomography scan grading muscular fatty degeneration in five stages was done in 63 patients scheduled for repair of a torn rotator cuff, finding that infraspinatus degeneration had a highly negative influence on the outcome of suprasp inatus repairs.
Journal ArticleDOI
Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy.
Tatjana Paternostro-Sluga,Martina Grim-Stieger,Martin Posch,Othmar Schuhfried,Gerda Vacariu,Christian Mittermaier,Christian Bittner,Veronika Fialka-Moser +7 more
TL;DR: Medical Research Council and modified Medical Research Council scales are measurements with substantial inter-rater and intra- rater reliability in evaluating forearm muscles.
Journal ArticleDOI
Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies
Anita S. D. Saporta,Stephanie L. Sottile,Lindsey J. Miller,Shawna M. E. Feely,Carly E. Siskind,Michael E. Shy +5 more
TL;DR: A large number of the genes involved inarcot‐Marie‐Tooth disease are unknown, but it is unclear how these genes contribute to the disease or how they are passed on through the immune system.
Journal ArticleDOI
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
Irina V. Mersiyanova,Alexander V. Perepelov,Alexander V. Polyakov,Vladimir F. Sitnikov,Elena L. Dadali,Roman B. Oparin,Alexander N. Petrin,Oleg Evgrafov +7 more
TL;DR: Screening of affected family members for mutations in the NF-L gene and in the tightly linked neurofilament-medium gene (NF-M) revealed the only DNA alteration linked with the disease: a A998C transversion in the first exon ofNF-L, which converts a conserved Gln333 amino acid to proline.
Related Papers (5)
Identification and Characterization of 22 Genes That Affect the Vulval Cell Lineages of the Nematode CAENORHABDITIS ELEGANS
Edwin L. Ferguson,H R Horvitz +1 more
Mutations with dominant effects on the behavior and morphology of the nematode Caenorhabditis elegans.
Eun-Chung Park,H. Robert Horvitz +1 more
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Ana Arteche-López,Maria Isabel Alvarez-Mora,M T Sánchez Calvin,J M Lezana Rosales,C Palma Milla,M J Gómez Rodríguez,I Gomez Manjón,Alberto Blázquez,A Juarez Rufián,P Ramos Gómez,O Sierra Tomillo,I Hidalgo Mayoral,R Pérez de la Fuente,I J Posada Rodríguez,L I González Granado,Miguel A. Martín,Juan Francisco Quesada-Espinosa,M. Moreno-García +17 more