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American Journal of Human Genetics|October 10, 2001

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.

Neurology|December 29, 2005

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.

Journal of Medical Genetics|May 17, 2005

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.

Neurology|July 24, 2002

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with coresH Jungbluth, C R Müller, B Halliger-Keller, et al.

Human Molecular Genetics|December 14, 2001

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington, Y Yuva, P Prandini, et al.

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Showing results (31-40 of 35) with videos related to

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You have reached the last page of results.This site can display upto 35 results.

American Journal of Human Genetics|October 10, 2001

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.

Neurology|December 29, 2005

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.

Journal of Medical Genetics|May 17, 2005

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.

Neurology|July 24, 2002

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with coresH Jungbluth, C R Müller, B Halliger-Keller, et al.

Human Molecular Genetics|December 14, 2001

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington, Y Yuva, P Prandini, et al.

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