LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies
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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 tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
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
C2 - 25663498
VL - 52
SP - 547
EP - 553
JO - Muscle & Nerve
JF - Muscle & Nerve
SN - 0148-639X
IS - 4
ER -
ID: 161853089