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Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene |
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| Authors: | D'Amico A Benedetti S Petrini S Sambuughin N Boldrini R Menditto I Ferrari M Verardo M Goldfarb L Bertini E |
| Affiliation: | aUnit of Molecular Medicine and Pathology, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy bLaboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milan, Italy cUnit for Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milan, Italy dNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA |
| Abstract: | Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy. |
| Keywords: | Lamin A/C Desmin Myofibrillar myopathy |
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