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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Muscular Dystrophy, Emery-Dreifuss

Terme préférentiel

Muscular Dystrophy, Emery-Dreifuss  

Type

  • mesh:Descriptor

Définition

  • A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss Syndrome
  • Emery-Dreifuss Type Muscular Dystrophy
  • Muscular Dystrophy, Emery-Dreifuss Type

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-V6VG3SXZ-9

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RDF/XML TURTLE JSON-LD Date de création 08/11/1999, dernière modification le 21/02/2020