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

Nicoline Løkken; Alfred Peter Born; Morten Duno; John Vissing

doi:10.1002/mus.24588

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

Nicoline Løkken, Alfred Peter Born, Morten Duno, John Vissing

24 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Muscle & Nerve
Vol/bind	52
Udgave nummer	4
Sider (fra-til)	547-53
Antal sider	7
ISSN	0148-639X
DOI	https://doi.org/10.1002/mus.24588
Status	Udgivet - 1 okt. 2015

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10.1002/mus.24588

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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 = "{\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2015",

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doi = "10.1002/mus.24588",

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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

PY - 2015/10/1

Y1 - 2015/10/1

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

C2 - 25663498

SN - 0148-639X

VL - 52

SP - 547

EP - 553

JO - Muscle & Nerve

JF - Muscle & Nerve

IS - 4

ER -

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

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