Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study.
Neuromuscul Disord
; 32(9): 718-727, 2022 09.
Article
en En
| MEDLINE
| ID: mdl-35922275
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive scapulohumeroperoneal weakness/atrophy and potentially fatal dilated cardiomyopathy with conduction defects. We evaluated clinical and genetic findings of 32 patients with EDMD phenotype from 14 unrelated families, diagnosed at the Department of Neurology, Istanbul Faculty of Medicine between 1989 and 2022. Twenty-three patients from 8 unrelated families were diagnosed with EDMD1 (58%), 5 patients from 3 families with EDMD2 (21%), and 2 patients from 1 family with the rare EDMD3 (7%). Genetic diagnosis was achieved in 12 unrelated kinships with classical EDMD phenotype (86%) by applying panel testing, but no mutation could be determined in 2 patients with classical EDMD phenotype from 2 unrelated families (14%). Three novel pathogenic variants (c.19delC, c.416_417delTT, c.123C > G) in EMD, and a novel (c.1441dupT) heterozygous likely pathogenic variant in LMNA gene were found. This is the largest cohort from Turkey, expanding the genetic spectrum of EDMD, and providing clues for genetic testing of EDMD in Turkey.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Distrofia Muscular de Emery-Dreifuss
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Reino Unido