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Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
Neuromuscul Disord. 2004 May; 14(5):301-6.ND

Abstract

Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. Eight patients of a large consanguineous family of Spanish ancestry in Costa Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and electrophysiological features of these patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was between 26 and 42 years, and the disease duration ranged from 2 to 19 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2.

Authors+Show Affiliations

Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15099588

Citation

Berghoff, Corinna, et al. "Clinical and Electrophysiological Characteristics of Autosomal Recessive Axonal Charcot-Marie-Tooth Disease (ARCMT2B) That Maps to Chromosome 19q13.3." Neuromuscular Disorders : NMD, vol. 14, no. 5, 2004, pp. 301-6.
Berghoff C, Berghoff M, Leal A, et al. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscul Disord. 2004;14(5):301-6.
Berghoff, C., Berghoff, M., Leal, A., Morera, B., Barrantes, R., Reis, A., Neundörfer, B., Rautenstrauss, B., Del Valle, G., & Heuss, D. (2004). Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscular Disorders : NMD, 14(5), 301-6.
Berghoff C, et al. Clinical and Electrophysiological Characteristics of Autosomal Recessive Axonal Charcot-Marie-Tooth Disease (ARCMT2B) That Maps to Chromosome 19q13.3. Neuromuscul Disord. 2004;14(5):301-6. PubMed PMID: 15099588.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. AU - Berghoff,Corinna, AU - Berghoff,Martin, AU - Leal,Alejandro, AU - Morera,Bernal, AU - Barrantes,Ramiro, AU - Reis,André, AU - Neundörfer,Bernhard, AU - Rautenstrauss,Bernd, AU - Del Valle,Gerardo, AU - Heuss,Dieter, PY - 2003/11/27/received PY - 2004/01/28/revised PY - 2004/02/12/accepted PY - 2004/4/22/pubmed PY - 2004/6/23/medline PY - 2004/4/22/entrez SP - 301 EP - 6 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 14 IS - 5 N2 - Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. Eight patients of a large consanguineous family of Spanish ancestry in Costa Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and electrophysiological features of these patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was between 26 and 42 years, and the disease duration ranged from 2 to 19 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/15099588/Clinical_and_electrophysiological_characteristics_of_autosomal_recessive_axonal_Charcot_Marie_Tooth_disease__ARCMT2B__that_maps_to_chromosome_19q13_3_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960896604000355 DB - PRIME DP - Unbound Medicine ER -