RT Journal Article
T1 Inflammatory myopathy in the context of an unusual overlapping laminopathy
A1 Guillín Amarelle, Cristina
A1 Sánchez Iglesias, Sofía
A1 Mera Varela, Antonio José
A1 Pintos, Elena
A1 Castro Pais, Ana
A1 Rodríguez Cañete, Blanca Leticia
A1 Pardo Fernández, Julio
A1 Casanueva Freijo, Felipe
A1 Araujo-Vilar, David
AB Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery–Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot–Marie–Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported. This study aimed to determine the genetic basis of an overlapping syndrome in a patient with heart disease, myopathy, and features of lipodystrophy, combined with severe metabolic syndrome. We evaluated a 54-year-old woman with rheumatoid arthritis, chronic hypercortisolism (endogenous and exogenous), and a history of cured adrenal Cushing syndrome. The patient presented with a complex disorder, including metabolic syndrome associated with mild partial lipodystrophy (Köbberling-like); mild hypertrophic cardiomyopathy, with Wolff–Parkinson– White syndrome and atrial fibrillation; and limb-girdle inflammatory myopathy. Mutational analysis of the LMNA gene showed a heterozygous c.1634G>A (p.R545H) variant in exon 10 of LMNA. This variant has previously been independently associated with FPLD2, EDMD2, LGMD1B, and heart disease. We describe a new, LMNA-associated, complex overlapping syndrome in which fat, muscle, and cardiac disturbances are related to a p.R545H variant.
PB Sociedade Brasileira de Endocrinologia e Metabologia
SN 2359-3997
YR 2018
FD 2018
LK http://hdl.handle.net/10347/22916
UL http://hdl.handle.net/10347/22916
LA eng
NO Guillín-Amarelle, C., Sánchez-Iglesias, S., Mera, A., Pintos, E., Castro-Pais, A., Rodríguez-Cañete, L., ... & Araújo-Vilar, D. (2018). Inflammatory myopathy in the context of an unusual overlapping laminopathy. Archives of endocrinology and metabolism, 62(3), 376-382.
NO This work was funded by the Instituto de Salud Carlos III (grant number: PI081449) and the European Regional Development Fund, FEDER. In addition, SRG was awarded a Research Fellowship granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP)
DS Minerva
RD 4 may 2026