Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
about
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodelingMuscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophyLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.Autosomal recessive limb-girdle muscular dystrophies in the Czech RepublicExtensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 MutationsScreening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.How to tackle the diagnosis of limb-girdle muscular dystrophy 2AThe clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).Early onset calpainopathy with normal non-functional calpain 3 level.Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.Limb-girdle muscular dystrophy type 2A in Brazilian children.Limb Girdle Muscular Dystrophies
P2860
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P2860
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
@en
type
label
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
@en
prefLabel
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
@en
P2093
P50
P356
P1433
P1476
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
@en
P2093
A C Nascimbeni
C P Trevisan
L Politano
M Spinazzi
V M Ventriglia
P2860
P356
10.1002/HUMU.20058
P577
2004-07-01T00:00:00Z