Limb-Girdle Muscular Dystrophies

M. P. Wicklund

doi:10.1016/B978-0-12-385157-4.00623-0

Limb-Girdle Muscular Dystrophies

M. P. Wicklund

Producción científica: Chapter

1 Cita (Scopus)

Resumen

Molecular and genetic breakthroughs continue to explode our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the more than 25 genes underlying these genetic muscle diseases lead to substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory, and biopsy features often help to distinguish among them. Treatment remains predominantly supportive with excitement surrounding the genetic-based therapies.

Idioma original	English (US)
Título de la publicación alojada	Encyclopedia of the Neurological Sciences
Editorial	Elsevier Inc.
Páginas	890-896
Número de páginas	7
ISBN (versión digital)	9780123851574
ISBN (versión impresa)	9780123851581
DOI	https://doi.org/10.1016/B978-0-12-385157-4.00623-0
Estado	Published - ene 1 2014
Publicado de forma externa	Sí

ASJC Scopus subject areas

General Medicine

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KW - Calpain

KW - Caveolin

KW - Creatine kinase

KW - Dysferlin

KW - Fukutin-related protein

KW - Lamin A/C

KW - Limb-Girdle muscular dystrophy

KW - Muscle biopsy

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KW - Telethonin

KW - Titin

KW - α-Dystroglycan

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ER -

Limb-Girdle Muscular Dystrophies

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