First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome
Journal of Korean Medical Science
;
: 780-783, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-80567
ABSTRACT
Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worldwide. This report describes, for the first time, a Korean family with two generations of SHS resulting from a rare TPM2 mutation, p.R133W. The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali. Generalized myopathy with relative sparing of the slow-twitch muscle fibers was also revealed by electromyography in the affected mother.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Artrogriposis
/
Tropomiosina
/
Huesos del Pie
/
Exones
/
Análisis de Secuencia de ADN
/
Pueblo Asiatico
/
Alelos
/
Falanges de los Dedos de la Mano
Límite:
Femenino
/
Humanos
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2013
Tipo del documento:
Artículo
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