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Article

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy.

The Turkish journal of pediatrics - 1 Jan 2020

Tekin Hande, Yılmaz Sanem, Tekgül Hasan, Gökben Sarenur, Aktan Gül

Abstract excerpt

Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C > A)...

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Source

Identifiers

PMID: 32253878
DOI: 10.24953/turkjped.2020.01.019

Provenance

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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