Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

The putative gene for autosomal recessive nemaline myopathy has not been mapped, cloned, or otherwise characterised. We used linkage analysis with polymorphic CA repeats to test for the involvement of two candidate loci, APOA2 and ACTN2. Based on the segregation in five families both candidate loci could be excluded.

[1]  L. Kunkel,et al.  A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. , 1992, Genomics.

[2]  L. Kunkel,et al.  Cloning and Characterization of Two Human Skeletal Muscle 0-actinin Genes Located on Chromosomes 1 and 11* , 2022 .

[3]  E. Haan,et al.  Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. , 1992, American journal of human genetics.

[4]  C. Wallgren‐Pettersson,et al.  Genetics of congenital nemaline myopathy: a study of 10 families. , 1990, Journal of medical genetics.

[5]  J. Weber,et al.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. , 1989, American journal of human genetics.

[6]  C. Wallgren‐Pettersson.  Congenital nemaline myopathy A clinical follow-up study of twelve patients , 1989, Journal of the Neurological Sciences.

[7]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[8]  B. V. van Oost,et al.  Immunofluorescence microscopy of a myopathy: α-Actinin is a major constituent of nemaline rods , 1980 .

[9]  L. Rosenberg,et al.  Reviews, Notes, and Listings: When Others Must Choose: Deciding for Patients without Capacity , 1993, Annals of Internal Medicine.

[10]  W. Engel,et al.  NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. , 1963, Brain : a journal of neurology.

[11]  Donohue Wl,et al.  LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. , 1963 .

[12]  B. V. van Oost,et al.  Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. , 1980, Experimental cell research.

[13]  P. Conen,et al.  LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. , 1963, Canadian Medical Association journal.