Muscle disease

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man

Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
Zuhair N Al-Hassnan, Mazhor Al-Dosary, Majid Alfadhel, Eissa A Faqeih, Maysoon Alsagob, Rosan Kenana, Rawan Almass, Olfat S Al-Harazi, Hindi Al-Hindi, Omhani I Malibari, Faten B Almutari, Sahar Tulbah, Faten Alhadeq, Tarfa Al-Sheddi, Rana Alamro, Ali AlAsmari, Makki Almuntashri, Hesham Alshaalan, Futwan A Al-Mohanna, Dilek Colak, Namik Kaya

Journal of Medical Genetics Mar 2015, 52 (3) 186-194; DOI: 10.1136/jmedgenet-2014-102592
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Patrizia Calandra, Isabella Cascino, Richard J L F Lemmers, Giuliana Galluzzi, Emanuela Teveroni, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Fabiola Moretti, Silvère M van der Maarel, Giancarlo Deidda

Journal of Medical Genetics May 2016, 53 (5) 348-355; DOI: 10.1136/jmedgenet-2015-103436
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, Patrick F Chinnery

Journal of Medical Genetics Jan 2007, 44 (1) 69-74; DOI: 10.1136/jmg.2006.043109
Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
Mario D Cordero, Elísabet Alcocer-Gómez, Fabiola Marín-Aguilar, Tatyana Rybkina, David Cotán, Antonio Pérez-Pulido, José Miguel Alvarez-Suarez, Maurizio Battino, José Antonio Sánchez-Alcazar, Angel M Carrión, Ognjen Culic, José M Navarro-Pando, Pedro Bullón

Journal of Medical Genetics Feb 2016, 53 (2) 113-122; DOI: 10.1136/jmedgenet-2015-103392
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Nilgun Cetin, Burcu Balci-Hayta, Hulya Gundesli, Petek Korkusuz, Nuhan Purali, Beril Talim, Ersin Tan, Duygu Selcen, Sevim Erdem-Ozdamar, Pervin Dincer

Journal of Medical Genetics Jul 2013, 50 (7) 437-443; DOI: 10.1136/jmedgenet-2012-101487
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene
Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo

Journal of Medical Genetics Aug 2009, 46 (8) 542-547; DOI: 10.1136/jmg.2008.061259
Replacement of the myotonic dystrophy type 1 CTG repeat with ‘non-CTG repeat’ insertions in specific tissues
Michelle M Axford, Arturo López-Castel, Masayuki Nakamori, Charles A Thornton, Christopher E Pearson

Journal of Medical Genetics Jul 2011, 48 (7) 438-443; DOI: 10.1136/jmg.2010.085944
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Claudia Di Blasi, Serena Sansanelli, Alessandra Ruggieri, Manuela Moriggi, Michele Vasso, Adamo Pio D'Adamo, Flavia Blasevich, Simona Zanotti, Cecilia Paolini, Feliciano Protasi, Frediano Tezzon, Cecilia Gelfi, Lucia Morandi, Mauro Pessia, Marina Mora

Journal of Medical Genetics Sep 2015, 52 (9) 617-626; DOI: 10.1136/jmedgenet-2014-102882

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