Journal
MUSCLE & NERVE
Volume 42, Issue 5, Pages 839-841Publisher
WILEY
DOI: 10.1002/mus.21820
Keywords
congenital muscular dystrophy; dropped head syndrome; laminopathy; LMNA; L-CMD
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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. Muscle Nerve 42: 839-841, 2010
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