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Article

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.

Neuromuscular disorders : NMD - 1 Feb 2012

Hattori Ayako, Komaki Hirofumi, Kawatani Masao, Sakuma Hiroshi, Saito Yoshiaki, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22240398
DOI: 10.1016/j.nmd.2011.08.009

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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