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Article

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

Neuromuscular disorders : NMD - 1 Apr 2008

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

Abstract excerpt

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...

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Source

Identifiers

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

Genes

SMN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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