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American Journal of Human Genetics|March 21, 2000
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42M Brockington, C A Sewry, R Herrmann, et al.Neuromuscular Disorders : NMD|August 30, 2001
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblingsV Ruggieri, F Lubieniecki, F Meli, et al.Biochimica Et Biophysica Acta|May 24, 1995
Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotypeJ A Morgan-Hughes, M G Sweeney, J M Cooper, et al.Brain : a Journal of Neurology|June 1, 1993
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNAS R Hammans, M G Sweeney, M Brockington, et al.Neurology|April 23, 2003
The phenotype of limb-girdle muscular dystrophy type 2IM Poppe, L Cree, J Bourke, et al.Nature Genetics|August 31, 2001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeB Moghadaszadeh, N Petit, C Jaillard, et al.Neuromuscular Disorders : NMD|August 19, 2003
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotypeE Mercuri, C Cini, A Pichiecchio, et al.Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.Neuropediatrics|August 26, 2004
Congenital muscular dystrophy with short stature, proximal contractures and distal laxityE Mercuri, A Lampe, V Straub, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 24, 2008
Muscular dystrophies due to defective glycosylation of dystroglycanF Muntoni, M Brockington, C Godfrey, et al.Pageof 4