hereditary motor-sensory neuropathies

同

HMSNs

WordNet

1. machine that converts other forms of energy into mechanical energy and so imparts motion
2. a nonspecific agent that imparts motion; "happiness is the aim of all men and the motor of all action"
3. involving or derived from the senses; "sensory experience"; "sensory channels" (同)sensorial
4. the act of driving an automobile

PrepTutorEJDIC

1. (電気の)『モーター』,電動機 / エンジン,(特に)内燃機関 / 《英》自動車(motorcar) / 《名詞の前にのみ用いて》 / モーターの;エンジンの;自動車の / モーター(エンジン)による,自動車による / (神経・筋肉について)運動の / 自動車で行く / …‘を'自動車で運ぶ
2. 感覚の
3. 世襲の,親譲りの / 遺伝的な,遺伝性の
4. 自動車運転〈技術〉,ドライブ
5. (光・温度・放射能などの)感知器

UpToDate Contents

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• 1. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
• 2. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 3. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 4. 微細重複症候群 microduplication syndromes
• 5. 妊娠に合併した神経障害 neurologic disorders complicating pregnancy

English Journal

• The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

• Sevilla T1,2,3, Sivera R1, Martínez-Rubio D2,4, Lupo V2,4, Chumillas MJ5, Calpena E2,4, Dopazo J2,6, Vílchez JJ1,2,3, Palau F2,4, Espinós C2,4,7.
• European journal of neurology.Eur J Neurol.2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24.
• BACKGROUND AND PURPOSE: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype.METHODS: The clinical, nerve conduction studies and muscle magnetic resonance images of the pa
• PMID 26204789

• Acute optic neuropathy associated with a novel MFN2 mutation.

• Leonardi L1, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V, Santorelli FM, Pierelli F, Casali C.
• Journal of neurology.J Neurol.2015 Jul;262(7):1678-80. doi: 10.1007/s00415-015-7756-x. Epub 2015 May 10.
• Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot-Marie-Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with
• PMID 25957633

• First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.

• Kalane UD1, Datar C, Mahadevan A.
• Neurology India.Neurol India.2015 May-Jun;63(3):395-8. doi: 10.4103/0028-3886.158222.
• Charcot Marie Tooth (CMT) disease is a group of hereditary motor sensory neuropathies with significant genetic heterogeneity. This disorder has been scarcely reported in the Indian literature. Here, we report a case of the rare but relatively more severe autosomal recessive CMT type 4C disease with
• PMID 26053813

Japanese Journal

• Hereditary motor sensory neuropathy (HMSN) の広がり

• 臨床神経学 49(11), 950-952, 2009-11-01
• NAID 10026291204

Related Links

• Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth

HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT) CMT & HMSN: Demyelinating Dominant CMT 1A: PMP-22; 17p12 CMT 1B: P 0 protein; 1q23 CMT 1C: LITAF; 16p13 CMT 1D: EGR2; 10q21 PMP-22: 17p12 ...

• Hereditary motor and sensory neuropathies.

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers. Genomics. 1989 Feb; 4(2):192-7. [Genomics. 1989] Evidence for linkage of type I hereditary motor and sensory neuropathy to the ...

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★リンクテーブル★

リンク元	「HMSNs」
関連記事	「motor」「hereditary」「sensory」「sensor」

「HMSNs」

　　[★]

同

hereditary motor-sensory neuropathies

「motor」

　　[★]

• adj.

• 運動の

• n.

• モーター

関

exercise、kinesis、locomote、locomotive、motility、motion、move、movement

　 　 　

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「sensory」

　　[★]

• adj.

• 感覚性の、感覚の、知覚性の

関

sensation、sense、sensing

　 　

「sensor」

　　[★]

• n.

• センサー、感知器