Muscle disease

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
C Lagier-Tourenne, D Chaigne, J Gong, J Flori, M Mohr, D Ruh, D Christmann, J Flament, J-L Mandel, M Koenig, H Dollfus

Journal of Medical Genetics Nov 2002, 39 (11) 838-843; DOI: 10.1136/jmg.39.11.838
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
P F Chinnery, D T Brown, K Archibald, A Curtis, D M Turnbull

Journal of Medical Genetics May 2002, 39 (5) e22; DOI: 10.1136/jmg.39.5.e22
Reproductive counselling for women with myotonic dystrophy
A C Magee, A E Hughes, A Kidd, A Lopez de Munain, A M Cobo, K Kelly, J Dean, N C Nevin

Journal of Medical Genetics Mar 2002, 39 (3) e15; DOI: 10.1136/jmg.39.3.e15
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
Siv Fokstuen, Jenny Myring, Linda Meredith, David Ravine, Peter S Harper

Journal of Medical Genetics Dec 2001, 38 (12) e42; DOI: 10.1136/jmg.38.12.e42
Molecular and clinical study of two myotonic dystrophy homozygotes
Fahri Akbas, Piraye Serdaroglu, Feza Deymeer, Fikret Aysal, Nihan Erginel-Unaltuna

Journal of Medical Genetics Nov 2001, 38 (11) e40; DOI: 10.1136/jmg.38.11.e40
The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
Kristi J Jones, Graeme Morgan, Heather Johnston, Vivienne Tobias, Robert A Ouvrier, Ian Wilkinson, Kathryn N North

Journal of Medical Genetics Oct 2001, 38 (10) 649-657; DOI: 10.1136/jmg.38.10.649
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Michaela Jaksch, Stephanie Kleinle, Curt Scharfe, Thomas Klopstock, Dieter Pongratz, Josef Müller-Höcker, Klaus-D Gerbitz, Sabina Liechti-Gallati, Hanns Lochmuller, Rita Horvath

Journal of Medical Genetics Oct 2001, 38 (10) 665-673; DOI: 10.1136/jmg.38.10.665
Mitochondrial DNA inheritance in patients with deleted mtDNA
Lluis Quintana-Murci, Agnes Rötig, Arnold Munnich, Pierre Rustin, Thomas Bourgeron

Journal of Medical Genetics Sep 2001, 38 (9) e28; DOI: 10.1136/jmg.38.9.e28
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth
Rodney K Beals, Stephen LaFranchi

Journal of Medical Genetics Jul 2001, 38 (7) e22; DOI: 10.1136/jmg.38.7.e22
Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders
Elmar Kirches, Matthias Michael, Michaela Warich-Kirches, Thomas Schneider, Serge Weis, Guido Krause, Christian Mawrin, Knut Dietzmann

Journal of Medical Genetics May 2001, 38 (5) 312-317; DOI: 10.1136/jmg.38.5.312

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