Two children with "dropped head" syndrome due to lamin A/C mutations |
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Authors: | Chemla Jeremy C Kanter Ronald J Carboni Michael P Smith Edward C |
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Affiliation: | Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, USA. |
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Abstract: | 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 recognize, as molecular diagnostic testing can spare patients unnecessary procedures and prompt the physician to monitor for associated cardiac arrhythmias. |
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Keywords: | congenital muscular dystrophy “dropped head” syndrome laminopathy LMNA L‐CMD |
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