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Article

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

Pediatric neurology - 1 Apr 2014

Pasqualin Lívia M A, Reed Umbertina C, Costa Thais V M M, Quedas Elisângela, Albuquerque Marco A V, Resende Maria B D, Rutkowski Anne, Chadi Gerson, Zanoteli Edmar

Abstract excerpt

BACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24508248
DOI: 10.1016/j.pediatrneurol.2013.11.010

Genes

LMNA

Variants

Provenance

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Related research

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Research trail→

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Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.PMID 24508248Read ↗

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

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

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

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

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

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

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

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Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.Semantic proximity Read ↗

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