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Article

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.

Neuromuscular disorders : NMD - 1 Nov 2004

Fetoni Vincenza, Briem Egill, Carrara Franco, Mora Marina, Zeviani Massimo

Abstract excerpt

We describe a 49-year-old male patient who experienced progressive amyotrophy with no sensorial abnormality in the left arm since 45 years of age. The neuromuscular syndrome was identical to that known as Hirayama disease, a rare form of focal lower motor neuron disease affecting the C7-C8-T1 metamers of the spinal cord. Asymmetric neurosensorial hearing loss was present since age 35 in the patient, and was also...

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Source

Identifiers

PMID: 15482956
DOI: 10.1016/j.nmd.2004.07.002

Genes

UCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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