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eBook Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome (Acta neurologica Scandinavica : Supplementum) download

by John Calvin Morrison Brust

eBook Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome (Acta neurologica Scandinavica : Supplementum) download ISBN: 8716080491
Author: John Calvin Morrison Brust
Publisher: Munksgaard (1978)
Language: English
ePub: 1538 kb
Fb2: 1919 kb
Rating: 4.8
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Category: Other

Clinical And Electrodi. by John Calvin Morrison Brust. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome (Acta neurologica Scandinavica : Supplementum). 8716080491 (ISBN13: 9788716080493).

Clinical And Electrodi.

Acta Neurol Scand Suppl. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Brust JC, Lovelace RE, Devi S. PMID: 212921. Publication type, MeSH terms.

John Calvin Morrison Brust

John Calvin Morrison Brust. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrom. 1 2 3 4 5. Want to Read. Are you sure you want to remove Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome from your list? Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Published 1978 by Munksgaard in Copenhagen. Acta neurologica Scandinavica : Supplementum ;, 68, v. 58, Acta neurologica Scandinavica. 68 etc. Classifications.

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Brust JCM, Lovelace RE, and Devi S. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Acta Neurologica Scandinavica. 58:Supplement 68: 1-42. Rossi A, Paradiso C, Cioni R, Rizzuto N, Guazzi G. Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form.

Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand Suppl

Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand Suppl. Charcot-Marie-Tooth (CMT) disease is a group of motor and sensory neuropathies with a high degree of pathological and genetic heterogenicity. The present study described 2 patients with CMT in a Chinese Han pedigree. The proband exhibited the classic manifestation of CMT with slowly progressing muscular atrophy and weakness.

A variety of mutation types have been associated with CMT, including whole gene duplications and deletions, as well as point mutations. For example, duplication of the PMP22 gene causes CMT1A, the most common subtype (approximately 40 percent overall). On electrodiagnostic testing, patients with HNPP will typically display signs of a demyelinating neuropathy even while asymptomatic, including subclinical carpal tunnel syndrome.

Acta Neurologica Scandinavica Impact Factor. Journal Abbreviation: ACTA NEUROL SCAND. Journal ISSN: 0001-6314. Journal impact factor details. 2017/2018 Impact Factor : . 26. 2016 Impact Factor : . 87. 2015 Impact Factor : . 59.

CMT was previously classified as a subtype of muscular dystrophy.

It has been assumed to be genetically distinct. A family is described in which the index case displayed these features. Motor nerve conduction velocity was substantially reduced. John C. M. Brust, R. E. Lovelace, Subhadra Devi. Scapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome.