Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió acceptadaData de publicació
Tots els drets reservats
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/126631
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent Muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, Muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of legs, as well as mild scapular winging and hyperlordosis. A muscle biopsy taken from the biceps brachii showed mild dystrophic changes, absent vacuoles, and abundant lobulated fibers. Immunofluorescence and Western blot assays demonstrated complete telethonin deficiency. Molecular analysis revealed a homozygous Trp25X mutation in the telethonin (TCAP) gene resulting in termination of transcription at an early point. Four families from Brazil with telethonin deficiency have previously been reported and classified as LMD2G, but the actual frequency of this disease is unknown. With this current identification of a case outside the Brazilian Population, telethonin mutation-associated LGMD should be considered worldwide. (C) 2008 Elsevier B.V. All rights reserved.
Matèries
Matèries (anglès)
Citació
Citació
OLIVÉ I PLANA, Montserrat, SHATUNOV, Alexey, GONZÁLEZ MERA, Laura, CARMONA, Olga, MORENO, Dolores, GONZÁLEZ QUEREDA, Lidia, MARTÍNEZ MATOS, Juan antonio, GOLDFARB, Lev g., FERRER, Isidro (ferrer abizanda). Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. _Neuromuscular Disorders_. 2008. Vol. 18, núm. 12, pàgs. 929-933. [consulta: 20 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/126631]