LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies

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Standard

LAMA2-related myopathy : Frequency among congenital and limb-girdle muscular dystrophies. / Løkken, Nicoline; Born, Alfred Peter; Duno, Morten; Vissing, John.

I: Muscle & Nerve, Bind 52, Nr. 4, 10.2015, s. 547-53.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Løkken, N, Born, AP, Duno, M & Vissing, J 2015, 'LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies', Muscle & Nerve, bind 52, nr. 4, s. 547-53. https://doi.org/10.1002/mus.24588

APA

Løkken, N., Born, A. P., Duno, M., & Vissing, J. (2015). LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & Nerve, 52(4), 547-53. https://doi.org/10.1002/mus.24588

Vancouver

Løkken N, Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & Nerve. 2015 okt;52(4):547-53. https://doi.org/10.1002/mus.24588

Author

Løkken, Nicoline ; Born, Alfred Peter ; Duno, Morten ; Vissing, John. / LAMA2-related myopathy : Frequency among congenital and limb-girdle muscular dystrophies. I: Muscle & Nerve. 2015 ; Bind 52, Nr. 4. s. 547-53.

Bibtex

@article{e8f1072833bf49dbba76e7bf13397cc5,
title = "LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies",
abstract = "INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.METHODS: In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.RESULTS: Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28{\%} in the CMD and 2.3{\%} in the LGMD cohorts, respectively.CONCLUSIONS: This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.",
keywords = "Adolescent, Aged, Biopsy, Central Nervous System, Child, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Denmark, Female, Genetic Testing, Humans, Laminin, Magnetic Resonance Imaging, Male, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Myasthenic Syndromes, Congenital",
author = "Nicoline L{\o}kken and Born, {Alfred Peter} and Morten Duno and John Vissing",
note = "{\circledC} 2015 Wiley Periodicals, Inc.",
year = "2015",
month = "10",
doi = "10.1002/mus.24588",
language = "English",
volume = "52",
pages = "547--53",
journal = "Muscle & Nerve",
issn = "0148-639X",
publisher = "JohnWiley & Sons, Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - LAMA2-related myopathy

T2 - Frequency among congenital and limb-girdle muscular dystrophies

AU - Løkken, Nicoline

AU - Born, Alfred Peter

AU - Duno, Morten

AU - Vissing, John

N1 - © 2015 Wiley Periodicals, Inc.

PY - 2015/10

Y1 - 2015/10

N2 - INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.METHODS: In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.RESULTS: Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.CONCLUSIONS: This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.

AB - INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.METHODS: In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.RESULTS: Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.CONCLUSIONS: This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.

KW - Adolescent

KW - Aged

KW - Biopsy

KW - Central Nervous System

KW - Child

KW - Child, Preschool

KW - Cohort Studies

KW - Cross-Sectional Studies

KW - Denmark

KW - Female

KW - Genetic Testing

KW - Humans

KW - Laminin

KW - Magnetic Resonance Imaging

KW - Male

KW - Muscle, Skeletal

KW - Muscular Dystrophies, Limb-Girdle

KW - Mutation

KW - Myasthenic Syndromes, Congenital

U2 - 10.1002/mus.24588

DO - 10.1002/mus.24588

M3 - Journal article

VL - 52

SP - 547

EP - 553

JO - Muscle & Nerve

JF - Muscle & Nerve

SN - 0148-639X

IS - 4

ER -

ID: 161853089