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Title: Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Author: Gamez, Josep
Armstrong i Morón, Judith
Shatunov, Alexey
Selva O'Callaghan, Albert
Domínguez Oronoz, Rosa
Ortega, Arantxa
Goldfarb, Lev
Ferrer, Isidro (Ferrer Abizanda)
Olivé i Plana, Montserrat
Keywords: Fenotip
Malalties musculars
Expressió gènica
Muscular Diseases
Gene expression
Issue Date: 15-Feb-2009
Publisher: Elsevier B.V.
Abstract: Myotilinopathies are a group of muscle disorders caused by mutations in the MYOT gene. It was first described in two families suffering from limb girdle muscle dystrophy type 1 (LGMD 1A), and later identified in a subset of dominant or sporadic patients suffering from myofibrillar myopathy, as well as in a family with spheroid body myopathy. Disease phenotypes associated with MYOT mutations are clinically heterogeneous and include pure LGMD forms as well as late-onset distal myopathies. We report here on a 53-year-old male suffering from a unique clinical profile characterized by generalized symmetrical increase in muscle bulk leading to a Herculean appearance. Muscle weakness and stiffness in the lower extremities were the patient's main complaints. Muscle MRI showed extensive fatty infiltration in the thigh and leg muscles and a muscle biopsy showed a myofibrillar myopathy with prominent protein aggregates. Gene sequencing revealed a Ser55Phe missense mutation in the myotilin gene. The mutation was identified in his older brother, who presented a mild hypertrophic appearance and had a myopathic pattern in EMG, despite not presenting any of the complaints of the proband and having normal muscle strength. This finding, and his deceased father and paternal aunt's similar gait disorders, suggest that this is in fact a new autosomal dominant kindred. The present observations further expand the spectrum of clinical manifestations associated with mutations in the myotilin gene.
Note: Versió postprint del document publicat a:
It is part of: Journal of the Neurological Sciences, 2009, vol. 277, num. 1-2, p. 167-171
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ISSN: 0022-510X
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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