Premium
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery–Dreifuss muscular dystrophy phenotype
Author(s) -
Maioli Maria Antonietta,
Marrosu Giovanni,
Mateddu Anna,
Solla Elisabetta,
Carboni Nicola,
Tacconi Paolo,
Lai Carlo,
Marrosu Maria Giovanna
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20879
Subject(s) - lamin , lmna , nuclear lamina , muscle contracture , phenotype , emerin , muscular dystrophy , biology , genetics , anatomy , pathology , gene , medicine , nuclear protein , transcription factor
Lamins are the principal components of the nuclear lamina, a network constituting the major structural framework of the nuclear envelope. Alterations in lamin A/C have been associated with a heterogeneous series of human disorders known as laminopathies. We report the finding of a novel deletion in the central rod domain of lamin A/C exon 3 gene in four members of the same family. This genetic alteration was likely responsible for the relatively homogeneous clinical phenotype observed in our three patients, represented by a prominent cardiac conduction‐system disease necessitating permanent pacemaker implantation, and limited skeletal involvement manifested by spinal rigidity and contractures. The findings from these cases further expand the clinical spectrum associated with mutations in the LMNA gene. Muscle Nerve, 2007