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[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
Rinsho Shinkeigaku. 2014; 54(12):957-9.RS

Abstract

Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

Authors+Show Affiliations

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences; Neurology, Kagoshima University Medical and Dental Hospital.

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

jpn

PubMed ID

25672680

Citation

Takashima, Hiroshi. "[Clinical Practice of Hereditary Motor Neuropathy (HMN) and Hereditary Sensory and Autonomic Neuropathy (HSAN)]." Rinsho Shinkeigaku = Clinical Neurology, vol. 54, no. 12, 2014, pp. 957-9.
Takashima H. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)]. Rinsho Shinkeigaku. 2014;54(12):957-9.
Takashima, H. (2014). [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)]. Rinsho Shinkeigaku = Clinical Neurology, 54(12), 957-9. https://doi.org/10.5692/clinicalneurol.54.957
Takashima H. [Clinical Practice of Hereditary Motor Neuropathy (HMN) and Hereditary Sensory and Autonomic Neuropathy (HSAN)]. Rinsho Shinkeigaku. 2014;54(12):957-9. PubMed PMID: 25672680.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)]. A1 - Takashima,Hiroshi, PY - 2015/2/13/entrez PY - 2015/2/13/pubmed PY - 2015/10/20/medline SP - 957 EP - 9 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 54 IS - 12 N2 - Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN. SN - 1882-0654 UR - https://www.unboundmedicine.com/medline/citation/25672680/[Clinical_practice_of_hereditary_motor_neuropathy__HMN__and_hereditary_sensory_and_autonomic_neuropathy__HSAN_]_ L2 - http://joi.jlc.jst.go.jp/DN/JST.JSTAGE/clinicalneurol/54.957?from=PubMed DB - PRIME DP - Unbound Medicine ER -