A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

scientific article published on 17 June 2011

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.NMD.2011.05.007
P932PMC publication ID5210217
P698PubMed publication ID21683594

P50authorKathryn NorthQ21062251
Nigel F ClarkeQ118704222
P2093author name stringYing Hu
Robert L Smith
Leigh B Waddell
Susan Arbuckle
Carsten G Bönnemann
Monkol Lek
Frances J Evesson
Jenny Tran
Min-Xia Wang
Xi F Zheng
P2860cites workMolecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domainQ24304371
A map of human genome variation from population-scale sequencingQ24617794
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Q24642919
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1Q24643534
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyQ24647512
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Q24678868
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
Telethonin, a novel sarcomeric protein of heart and skeletal muscleQ28118954
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninQ28143777
Telethonin protein expression in neuromuscular disordersQ28207504
Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspasesQ28238072
Mutations in myotilin cause myofibrillar myopathyQ28258812
BAG3 deficiency results in fulminant myopathy and early lethalityQ28585764
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Q30438210
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsQ33543165
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic populationQ33685609
Making sense of the limb-girdle muscular dystrophiesQ33701932
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genesQ34080106
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31Q34388211
Mutation in BAG3 causes severe dominant childhood muscular dystrophyQ34904884
The 10 autosomal recessive limb-girdle muscular dystrophiesQ35201105
Limb-girdle muscular dystrophies--from genetics to molecular pathologyQ35714351
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patientQ36992611
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophyQ37328469
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyQ37408211
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.Q37839443
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophyQ40981277
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypesQ46043728
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002Q57398182
NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHYQ58036266
Diagnosis and etiology of congenital muscular dystrophyQ80412916
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisQ81357179
The 2011 version of the gene table of neuromuscular disordersQ82795826
P433issue11
P921main subjectmuscular dystrophyQ1137767
P304page(s)776-781
P577publication date2011-06-17
P1433published inNeuromuscular DisordersQ1981326
P1476titleA study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients
P478volume21

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cites work (P2860)
Q91623053FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy
Q33940251Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Q64039438Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
Q38471353The sarcomeric M-region: a molecular command center for diverse cellular processes

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