Limb-Girdle Muscular Dystrophies

M. P. Wicklund

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

Limb-Girdle Muscular Dystrophies

M. P. Wicklund

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

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.

Original language	English (US)
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier Inc.
Pages	890-896
Number of pages	7
ISBN (Electronic)	9780123851574
ISBN (Print)	9780123851581
DOIs	https://doi.org/10.1016/B978-0-12-385157-4.00623-0
State	Published - Jan 1 2014
Externally published	Yes

Keywords

Anoctamin
Calpain
Caveolin
Creatine kinase
Dysferlin
Fukutin-related protein
Lamin A/C
Limb-Girdle muscular dystrophy
Muscle biopsy
Sarcoglycan
Telethonin
Titin
α-Dystroglycan

ASJC Scopus subject areas

General Medicine

Access to Document

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

Cite this

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title = "Limb-Girdle Muscular Dystrophies",

abstract = "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.",

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AB - 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.

KW - Anoctamin

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

KW - Sarcoglycan

KW - Telethonin

KW - Titin

KW - α-Dystroglycan

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SN - 9780123851581

SP - 890

EP - 896

BT - Encyclopedia of the Neurological Sciences

PB - Elsevier Inc.

ER -

Limb-Girdle Muscular Dystrophies

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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