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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

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Author(s):
Pasqualin, Livia M. A. [1] ; Reed, Umbertina C. [1] ; Costa, Thais V. M. M. [1] ; Quedas, Elisangela [2] ; Albuquerque, Marco A. V. [1] ; Resende, Maria B. D. [1] ; Rutkowski, Anne [3] ; Chadi, Gerson [1] ; Zanoteli, Edmar [1]
Total Authors: 9
Affiliation:
[1] Univ Sao Paulo, Sch Med, Dept Neurol, BR-05403000 Sao Paulo - Brazil
[2] Univ Sao Paulo, Sch Med, Dept Endocrinol, BR-05403000 Sao Paulo - Brazil
[3] Cure CMD, Kaiser SCPMG, Olathe, KS - USA
Total Affiliations: 3
Document type: Journal article
Source: PEDIATRIC NEUROLOGY; v. 50, n. 4, p. 400-406, APR 2014.
Web of Science Citations: 6
Abstract

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 characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult. (AU)

FAPESP's process: 10/08902-5 - Clinical, histological and molecular study in children with lamin A/C and FKRP congenital muscular dystrophies
Grantee:Umbertina Conti Reed
Support Opportunities: Regular Research Grants