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Article

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Neurogenetics - 1 Apr 2007

Rudnik-Schöneborn Sabine, Botzenhart Elke, Eggermann Thomas, Senderek Jan, Schoser Benedikt G H, Schröder Rolf, Wehnert Manfred, Wirth Brunhilde, Zerres Klaus

Abstract excerpt

The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. Because the phenotypic spectrum of diseases caused by LMNA mutations is extremely broad and includes myopathies, neuropathies, and cardiomyopathies designated as class 1 laminopathies, we sequenced the...

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Identifiers

PMID: 17136397
DOI: 10.1007/s10048-006-0070-0

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17136397-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.PMID 17136397Read ↗

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