Muscle disease

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles
ANNEKE MAAT-KIEVIT, MONIQUE LOSEKOOT, HANNEKE VAN DEN BOER-VAN DEN BERG, GERT-JAN VAN OMMEN, MARTINUS NIERMEIJER, MARTIJN BREUNING, AAD TIBBEN

Journal of Medical Genetics Apr 2001, 38 (4) e12; DOI: 10.1136/jmg.38.4.e12
Homoplasmic 3316G→A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism?
CHING-WAN LAM, TAO YANG, MAN-WO TSANG, CHI-PUI PANG

Journal of Medical Genetics Mar 2001, 38 (3) e10; DOI: 10.1136/jmg.38.3.e10
Desmin splice variants causing cardiac and skeletal myopathy
Kye-Yoon Park, Marinos C Dalakas, Hans H Goebel, Victor J Ferrans, Christina Semino-Mora, Svetlana Litvak, Kazuyo Takeda, Lev G Goldfarb

Journal of Medical Genetics Nov 2000, 37 (11) 851-857; DOI: 10.1136/jmg.37.11.851
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
Evidence based medicine in practice: lessons from a Scottish clinical genetics project
Harry Campbell, Nicola Bradshaw, Rosemary Davidson, John Dean, David Goudie, Susan Holloway, Mary Porteous

Journal of Medical Genetics Sep 2000, 37 (9) 684-691; DOI: 10.1136/jmg.37.9.684
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31
MERIEL McENTAGART, GILLIAN SPURLOCK, CHARLES JACKSON, PETER HARPER, NAZNEEN RAHMAN

Journal of Medical Genetics Aug 2000, 37 (8) e14; DOI: 10.1136/jmg.37.8.e14
A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families
Pervin Dinçer, Zuhal Akçören, Ercan Demir, Isabelle Richard, Özgür Sancak, Gülsev Kale, Sencan Özme, Ayse Karaduman, Ersin Tan, J Andoni Urtizberea, Jacques S Beckmann, Haluk Topaloglu

Journal of Medical Genetics May 2000, 37 (5) 361-367; DOI: 10.1136/jmg.37.5.361
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations
Rita Barresi, Claudia Di Blasi, Tiziana Negri, Raffaella Brugnoni, Andrea Vitali, Giorgio Felisari, Antonio Salandi, Sergio Daniel, Ferdinando Cornelio, Lucia Morandi, Marina Mora

Journal of Medical Genetics Feb 2000, 37 (2) 102-107; DOI: 10.1136/jmg.37.2.102
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
Silvère M van der Maarel, Giancarlo Deidda, Richard J L F Lemmers, Egbert Bakker, Michiel J R van der Wielen, Lodewijk Sandkuijl, Jane E Hewitt, George W Padberg, Rune R Frants

Journal of Medical Genetics Nov 1999, 36 (11) 823-828; DOI: 10.1136/jmg.36.11.823
Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation
Outi Järvinen, Anna-Mari Aalto, Anna-Elina Lehesjoki, Mikael Lindlöf, Ismo Söderling, Antti Uutela, Helena Kääriäinen

Journal of Medical Genetics Aug 1999, 36 (8) 615-620; DOI: 10.1136/jmg.36.8.615

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