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Congenital muscular dystrophy with muscle hypertrophy MDC1C fukutin

M Poppe, L Cree, J Bourke, M Eagle, L V B Anderson, D Birchall, M Brockington, M Buddles, M Busby, F Muntoni, A Wills, K Bushby
BACKGROUND: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE: To define the phenotype in LGMD2I. METHODS: The authors assessed 16 patients from 14 families with FKRP gene mutations and LGMD and collected the results of mutation analysis, protein studies, and respiratory and cardiac investigations. RESULTS: Thirteen patients, most with adult presentation, were homozygous for the common C826A mutation in FKRP...
April 22, 2003: Neurology
M Brockington, Y Yuva, P Prandini, S C Brown, S Torelli, M A Benson, R Herrmann, L V Anderson, R Bashir, J M Burgunder, S Fallet, N Romero, M Fardeau, V Straub, G Storey, C Pollitt, I Richard, C A Sewry, K Bushby, T Voit, D J Blake, F Muntoni
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or adult life. We have recently demonstrated that the fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C), characterized by the inability to walk, leg muscle hypertrophy and a secondary deficiency of laminin alpha2 and alpha-dystroglycan...
December 1, 2001: Human Molecular Genetics
M Brockington, D J Blake, P Prandini, S C Brown, S Torelli, M A Benson, C P Ponting, B Estournet, N B Romero, E Mercuri, T Voit, C A Sewry, P Guicheney, F Muntoni
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes. Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene. In addition, a secondary deficiency of laminin alpha2 is apparent in some CMD syndromes, including MDC1B, which is mapped to chromosome 1q42, and both muscle-eye-brain disease (MEB) and Fukuyama CMD (FCMD), two forms with severe brain involvement...
December 2001: American Journal of Human Genetics
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