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Research Digest
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| Mar. 02 |
Some congenital MDs linked to defects in glycosylation [MDA Technical Summary] Brockington M et al. 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-dystroglycan. Am J Hum Genet. 2001 Dec;69(6):1198-209. [PubMed abstract] Hayashi YK et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001 Jul 10;57(1):115-21. [PubMed abstract] Yoshida A et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001 Nov;1(5):717-24. [PubMed abstract] |
| Mar. 02 |
Gene Therapy Offers Hope for Congenital MD
Moll J et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature. 2001 Sep 20;413(6853):302-7. [PubMed abstract] [Quest] |
| Mar. 02 |
Hispanic Families With OPMD Identified in New Mexico
Becher MW et al. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA. 2001 Nov 21;286(19):2437-40. [PubMed abstract] [Quest] |
| Nov. 01 |
Ullrich CMD linked to Bethlem myopathy gene
Camacho Vanegas O et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. [PubMed abstract] Higuchi I et al. Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001;50:261-265. [PubMed abstract] [MDA Technical Summary] |
| July 01 |
Walker-Warburg syndrome and MEB not genetically related
Cormand B et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001 Apr 24;56(8):1059-69. [PubMed abstract] Mendell JR et al. Congenital muscular dystrophy: searching for a definition after 98 years. Neurology. 2001 Apr 24;56(8):993-4. No abstract available. [PubMed abstract] [Quest] |
| July 01 |
Tracing the historical and biological origins of Fukuyuma congenital muscular dystrophy [MDA Technical Summary] Colombo R et al. Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Human Genetics 2000 Dec;107(6):559-67. [PubMed abstract] Sasaki J et al. Neuronal expression of the fukutin gene. Human Molecular Genetics 2000 Dec 12;9(20):3083-90. [PubMed abstract] |
| July 01 |
Mutant protein creates mess in OPMD [Quest] Calado A et al. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet. 2000 Sep 22;9(15):2321-8. [PubMed abstract] Becher MW et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. Ann Neurol. 2000 Nov;48(5):812-5. [PubMed abstract] Shanmugam V et al. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann Neurol. 2000 Nov;48(5):798-802. [PubMed abstract] |
| Nov. 00 |
CMD Round-Up Secondary merosin deficiency, Potential developmental advantages for CMD carriers, Muscle basal lamina in Fukuyama CMD, and non-founder mutations identified in Japanese Fukuyama CMD patients; [MDA Technical Summary] |
| Nov. 00 |
EDMD Round-Up Cause of autosomal recessive EDMD, Effects of different emerin mutations on emerin production and localization, Interaction between lamin-A/C and emerin, and lamin A knockout mice; [MDA Technical Summary] |
| Nov. 00 |
OPMD Round-Up OPMD symptoms caused by defects in the same gene in populations around the world; [MDA Technical Summary] |
| Nov. 00 |
Workshop Highlights Advances, Animal Models in CMD 68th ENMC International Workshop (5th International Workshop): On congenital muscular dystrophy, April 1999, Naarden, The Netherlands. (1999) Neuromuscular Disorders, 9 (6-7):446-454. [No Abstract Available] [MDA Technical Summary] |
| Nov. 00 |
Cognitive Abilities not Determined by Merosin Status in Classical Congenital Muscular Dystrophy Mercuri E, et al. (1999): Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. Neuromuscular Disorders, 9(6-7):383-387. [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
Some People With Early-Onset Oculopharyngeal Muscular Dystrophy May Have Double Dose of the Mutation Sergiu CB et al. (1999): Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Annals of Neurology, 46(1):115-118. [PubMed abstract] |
| Sept. 99 |
Loss of Emerin Leads to Structural Changes in Cell Nuclei Ognibene A, et al. (1999): Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. Muscle and Nerve, 22(7):864-869. [PubMed abstract] |
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