Literature DB >> 29679098

Mutations in genes associated with either myopathy or noncompaction.

J Finsterer1, C Stollberger2.   

Abstract

Entities:  

Year:  2018        PMID： 29679098     DOI： 10.1007/s00059-018-4705-3

Source DB:  PubMed          Journal:  Herz        ISSN： 0340-9937            Impact factor:   1.443


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  28 in total

1.  Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Authors:  Nigel F Clarke
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

2.  Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy.

Authors:  Giovanni Murialdo; Attilia Piazzi; Giuseppe Badolati; Enrico Calcagno; Agostino Berio
Journal:  Pediatr Med Chir       Date:  2016-06-27

3.  Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Authors:  Marja W Wessels; Johanna C Herkert; Ingrid M Frohn-Mulder; Michiel Dalinghaus; Arthur van den Wijngaard; Ronald R de Krijger; Michelle Michels; Irenaeus Fm de Coo; Yvonne M Hoedemaekers; Dennis Dooijes
Journal:  Eur J Hum Genet       Date:  2014-10-22       Impact factor: 4.246

4.  Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

Authors:  Karol Miszalski-Jamka; John L Jefferies; Wojciech Mazur; Jan Głowacki; Jianhong Hu; Monika Lazar; Richard A Gibbs; Jacek Liczko; Jan Kłyś; Eric Venner; Donna M Muzny; Jarosław Rycaj; Jacek Białkowski; Ewa Kluczewska; Zbigniew Kalarus; Shalini Jhangiani; Hussein Al-Khalidi; Tomasz Kukulski; James R Lupski; William J Craigen; Matthew N Bainbridge
Journal:  Circ Cardiovasc Genet       Date:  2017-08

5.  Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency.

Authors:  Kothari Sonam; Parayil Sankaran Bindu; Arun B Taly; Atchayaram Nalini; Chikkanna Govindaraju; Hanumanthapura R Aravinda; Nahid Akthar Khan; Kumaraswamy Thangaraj; Narayanappa Gayathri
Journal:  J Clin Neuromuscul Dis       Date:  2014-12

6.  Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Authors:  Homa Tajsharghi; Trond P Leren; Saba Abdul-Hussein; Mar Tulinius; Leif Brunvand; Hilde M Dahl; Anders Oldfors
Journal:  J Med Genet       Date:  2009-10-26       Impact factor: 6.318

7.  Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Authors:  Samira Ismail; Ashleigh E Schaffer; Rasim O Rosti; Joseph G Gleeson; Maha S Zaki
Journal:  Gene       Date:  2014-02-13       Impact factor: 3.688

8.  A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Authors:  Hugh Young Rienhoff; Chang-Yeol Yeo; Rachel Morissette; Irina Khrebtukova; Jonathan Melnick; Shujun Luo; Nan Leng; Yeon-Jin Kim; Gary Schroth; John Westwick; Hannes Vogel; Nazli McDonnell; Judith G Hall; Malcolm Whitman
Journal:  Am J Med Genet A       Date:  2013-07-03       Impact factor: 2.802

9.  A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

Authors:  Jakub P Fichna; Anna Potulska-Chromik; Przemysław Miszta; Maria Jolanta Redowicz; Anna M Kaminska; Cezary Zekanowski; Sławomir Filipek
Journal:  BBA Clin       Date:  2016-11-11

10.  A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

Authors:  Ilona Schirmer; Mareike Dieding; Bärbel Klauke; Andreas Brodehl; Anna Gaertner-Rommel; Volker Walhorn; Jan Gummert; Uwe Schulz; Lech Paluszkiewicz; Dario Anselmetti; Hendrik Milting
Journal:  Mol Genet Genomic Med       Date:  2017-12-23       Impact factor: 2.183
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