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Article

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Brain & development - 1 Apr 2017

Karaoglu Pakize, Quizon Nicolas, Pergande Matthias, Wang Haicui, Polat Ayşe Ipek, Ersen Ayca, Özer Erdener, Willkomm Lena, Hiz Kurul Semra, Heredia Raúl, Yis Uluç, Selcen Duygu, Çirak Sebahattin

Abstract excerpt

BACKGROUND: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. CASE DESCRIPTION: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27876398
DOI: 10.1016/j.braindev.2016.11.002

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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