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A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).

作者信息

Jedrzejowska Maria, Ryniewicz Barbara, Kabzińska Dagmara, Drac Hanna, Hausmanowa-Petrusewicz Irena, Kochański Andrzej

机构信息

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Ul. Pawińskiego 5, 02-106 Warsaw, Poland.

出版信息

Neuromuscul Disord. 2008 Apr;18(4):339-41. doi: 10.1016/j.nmd.2008.02.001. Epub 2008 Mar 11.

DOI:10.1016/j.nmd.2008.02.001
PMID:18337101
Abstract

In the present study, we report a single Polish SMA family in which the 17p11.2-p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. A patient harboring both SMA and CMT1A mutations manifested with SMA3 phenotype and foot deformity. Her electrophysiological testing showed chronic neurogenic changes in proximal muscles that are typical for SMA, but also slowed conduction velocity in motor and sensory fibers that is typical for demyelinating neuropathy.

摘要

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