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Article

Two children with "dropped head" syndrome due to lamin A/C mutations.

Muscle & nerve - 1 Nov 2010

Chemla Jeremy C, Kanter Ronald J, Carboni Michael P, Smith Edward C

Abstract excerpt

LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD patients. Patient 1 harbored a novel, L35P mutation and patient 2 a previously reported R249W mutation. The striking phenotype associated with L-CMD is important to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20886652
DOI: 10.1002/mus.21820

Genes

LMNA

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Two children with "dropped head" syndrome due to lamin A/C mutations.PMID 20886652Read ↗

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.Semantic proximity Read ↗

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.Semantic proximity Read ↗

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

Novel LMNA mutation presenting as severe congenital muscular dystrophy.Semantic proximity Read ↗

De novo LMNA mutations cause a new form of congenital muscular dystrophy.Semantic proximity Read ↗

The most severe form of LMNA-associated congenital muscular dystrophy.Semantic proximity Read ↗

Novel mutations in LMNA A/C gene and associated phenotypes.Semantic proximity Read ↗

Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene.Semantic proximity Read ↗

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.Semantic proximity Read ↗

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.Semantic proximity Read ↗

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

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.Semantic proximity Read ↗

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