Limb girdle muscular dystrophies

Samah K. Aburahma; Matthew P. Wicklund

doi:10.1016/B978-0-12-809324-5.23380-4

Limb girdle muscular dystrophies

Samah K. Aburahma
, Matthew P. Wicklund

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

Abstract

Molecular and genetic breakthroughs continue to amplify our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the myriad of genes underlying these genetic muscle diseases bring about substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory and biopsy features often help distinguish amongst them. Treatment, previously predominantly supportive, is transforming toward disease modifying, gene-based therapins.

Original language	English (US)
Title of host publication	The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
Publisher	Elsevier Science Ltd.
Pages	890-896
Number of pages	7
ISBN (Electronic)	9780128093245
DOIs	https://doi.org/10.1016/B978-0-12-809324-5.23380-4
State	Published - Jan 1 2016
Externally published	Yes

Keywords

Alpha-dystroglycan
Anoctamin
Calpain
Caveolin
Creatine kinase
Dysferlin
Fukutin-related protein
Lamin A/C
Limb-girdle muscular dystrophy
Muscle biopsy
Sarcoglycan
Telethonin
Titin
Valosin containing protein

ASJC Scopus subject areas

General Medicine

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10.1016/B978-0-12-809324-5.23380-4

Cite this

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title = "Limb girdle muscular dystrophies",

abstract = "Molecular and genetic breakthroughs continue to amplify our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the myriad of genes underlying these genetic muscle diseases bring about substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory and biopsy features often help distinguish amongst them. Treatment, previously predominantly supportive, is transforming toward disease modifying, gene-based therapins.",

keywords = "Alpha-dystroglycan, Anoctamin, Calpain, Caveolin, Creatine kinase, Dysferlin, Fukutin-related protein, Lamin A/C, Limb-girdle muscular dystrophy, Muscle biopsy, Sarcoglycan, Telethonin, Titin, Valosin containing protein",

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doi = "10.1016/B978-0-12-809324-5.23380-4",

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AU - Wicklund, Matthew P.

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AB - Molecular and genetic breakthroughs continue to amplify our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the myriad of genes underlying these genetic muscle diseases bring about substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory and biopsy features often help distinguish amongst them. Treatment, previously predominantly supportive, is transforming toward disease modifying, gene-based therapins.

KW - Alpha-dystroglycan

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 - Valosin containing protein

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U2 - 10.1016/B978-0-12-809324-5.23380-4

DO - 10.1016/B978-0-12-809324-5.23380-4

M3 - Chapter

AN - SCOPUS:85079567968

SP - 890

EP - 896

BT - The Curated Reference Collection in Neuroscience and Biobehavioral Psychology

PB - Elsevier Science Ltd.

ER -

Limb girdle muscular dystrophies

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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