The limb-girdle muscular dystrophies

Matthew P. Wicklund; John T. Kissel

doi:10.1016/j.ncl.2014.04.005

The limb-girdle muscular dystrophies

Matthew P. Wicklund, John T. Kissel

Research output: Contribution to journal › Review article › peer-review

57 Scopus citations

Abstract

A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.

Original language	English (US)
Pages (from-to)	729-749
Number of pages	21
Journal	Neurologic Clinics
Volume	32
Issue number	3
DOIs	https://doi.org/10.1016/j.ncl.2014.04.005
State	Published - Aug 2014
Externally published	Yes

Keywords

Anoctamin 5
Calpain 3
Dysferlin
Fukutin-related protein
Lamin A/C
Limb-girdle muscular dystrophy
Sarcoglycan

ASJC Scopus subject areas

Clinical Neurology

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10.1016/j.ncl.2014.04.005

Cite this

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title = "The limb-girdle muscular dystrophies",

abstract = "A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.",

keywords = "Anoctamin 5, Calpain 3, Dysferlin, Fukutin-related protein, Lamin A/C, Limb-girdle muscular dystrophy, Sarcoglycan",

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AU - Kissel, John T.

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AB - A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.

KW - Anoctamin 5

KW - Calpain 3

KW - Dysferlin

KW - Fukutin-related protein

KW - Lamin A/C

KW - Limb-girdle muscular dystrophy

KW - Sarcoglycan

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M3 - Review article

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VL - 32

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EP - 749

JO - Neurologic Clinics

JF - Neurologic Clinics

IS - 3

ER -

The limb-girdle muscular dystrophies

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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